dystonia

Summary

Summary: A persistent attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

Top Publications

  1. ncbi Treatment of dystonia
    Joseph Jankovic
    Parkinson s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
    Lancet Neurol 5:864-72. 2006
  2. pmc Cortically evoked long-lasting inhibition of pallidal neurons in a transgenic mouse model of dystonia
    Satomi Chiken
    Division of System Neurophysiology, National Institute for Physiological Sciences and Department of Physiological Sciences, Graduate University for Advanced Studies, Myodaiji, Okazaki 444 8585, Japan
    J Neurosci 28:13967-77. 2008
  3. ncbi Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    Tania Fuchs
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Genet 41:286-8. 2009
  4. pmc The functional neuroanatomy of dystonia
    Vladimir K Neychev
    Department of Surgery, Danbury Hospital, CT, USA
    Neurobiol Dis 42:185-201. 2011
  5. ncbi The pathophysiological basis of dystonias
    Xandra O Breakefield
    Department of Neurology and Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nat Rev Neurosci 9:222-34. 2008
  6. pmc Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
    Gavin Charlesworth
    Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Am J Hum Genet 91:1041-50. 2012
  7. ncbi Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
    Julie Phukan
    Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, UK
    Lancet Neurol 10:1074-85. 2011
  8. pmc Phenomenology and classification of dystonia: a consensus update
    Alberto Albanese
    Department of Neurology, Catholic University, Milan, Italy
    Mov Disord 28:863-73. 2013
  9. ncbi Sensorimotor integration in movement disorders
    Giovanni Abbruzzese
    Dipartimento di Scienze Neurologiche e della Visione, Universita di Genova, Via de Tony 5, 16132 Genoa, Italy
    Mov Disord 18:231-40. 2003
  10. ncbi Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    H Ichinose
    Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan
    Nat Genet 8:236-42. 1994

Detail Information

Publications353 found, 100 shown here

  1. ncbi Treatment of dystonia
    Joseph Jankovic
    Parkinson s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
    Lancet Neurol 5:864-72. 2006
    b>Dystonia, defined as a neurological syndrome characterised by involuntary, patterned, sustained, or repetitive muscle contractions of opposing muscles, causing twisting movements and abnormal postures, is one of the most disabling ..
  2. pmc Cortically evoked long-lasting inhibition of pallidal neurons in a transgenic mouse model of dystonia
    Satomi Chiken
    Division of System Neurophysiology, National Institute for Physiological Sciences and Department of Physiological Sciences, Graduate University for Advanced Studies, Myodaiji, Okazaki 444 8585, Japan
    J Neurosci 28:13967-77. 2008
    b>Dystonia is a neurological disorder characterized by sustained or repetitive involuntary muscle contractions and abnormal postures...
  3. ncbi Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    Tania Fuchs
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Genet 41:286-8. 2009
    ..the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia)...
  4. pmc The functional neuroanatomy of dystonia
    Vladimir K Neychev
    Department of Surgery, Danbury Hospital, CT, USA
    Neurobiol Dis 42:185-201. 2011
    b>Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. There are many different clinical manifestations, and many different causes...
  5. ncbi The pathophysiological basis of dystonias
    Xandra O Breakefield
    Department of Neurology and Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nat Rev Neurosci 9:222-34. 2008
    ..the characterization of animal models and functional evaluations and in vivo brain imaging of patients with dystonia. The data suggest that alterations in neuronal development and communication within the brain create a ..
  6. pmc Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
    Gavin Charlesworth
    Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Am J Hum Genet 91:1041-50. 2012
    ..causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia. Subsequent screening of these candidate causal variants in a large number of familial and sporadic cases of ..
  7. ncbi Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
    Julie Phukan
    Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, UK
    Lancet Neurol 10:1074-85. 2011
    ..b>Dystonia syndromes represent common movement disorders and yet are often misdiagnosed or unrecognised...
  8. pmc Phenomenology and classification of dystonia: a consensus update
    Alberto Albanese
    Department of Neurology, Catholic University, Milan, Italy
    Mov Disord 28:863-73. 2013
    ..of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript ..
  9. ncbi Sensorimotor integration in movement disorders
    Giovanni Abbruzzese
    Dipartimento di Scienze Neurologiche e della Visione, Universita di Genova, Via de Tony 5, 16132 Genoa, Italy
    Mov Disord 18:231-40. 2003
    ..Sensory symptoms are frequent in focal dystonia and sensory manipulation can modify the dystonic movements...
  10. ncbi Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    H Ichinose
    Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan
    Nat Genet 8:236-42. 1994
    Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa...
  11. ncbi Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
    J Tassin
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Brain 123:1112-21. 2000
    Autosomal dominant DOPA-responsive dystonia (DRD) is usually caused by mutation in the gene encoding guanosine triphosphate-cyclohydrolase I (GTPCH I)...
  12. pmc Cholinergic dysfunction alters synaptic integration between thalamostriatal and corticostriatal inputs in DYT1 dystonia
    Giuseppe Sciamanna
    Department of Neuroscience, University Tor Vergata Laboratory of Neurophysiology and Synaptic Plasticity, Fondazione Santa Lucia Istituto di Ricovero e Cura a Carattere Scientifico, 00143 Rome, Italy
    J Neurosci 32:11991-2004. 2012
    ..In mice with the DYT1 dystonia mutation, stimulation of thalamostriatal axons, mimicking a response to salient events, evoked a shortened pause ..
  13. ncbi Human brain mapping in dystonia reveals both endophenotypic traits and adaptive reorganization
    S Meunier
    Department of Clinical Neurophysiology, Pitie Salpetriere Hospital, Paris, France
    Ann Neurol 50:521-7. 2001
    b>Dystonia has a wide clinical spectrum from early-onset generalized to late-onset sporadic, task-specific forms. The genetic origin of the former has been clearly established...
  14. ncbi The cerebellum in dystonia - help or hindrance?
    A Sadnicka
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute for Neurology, Queen Square, London WC1N 3BG, UK
    Clin Neurophysiol 123:65-70. 2012
    b>Dystonia has historically been considered a disorder of the basal ganglia. This review aims to critically examine the evidence for a role of the cerebellum in the pathophysiology of dystonia...
  15. ncbi Dystonia and the cerebellum: a new field of interest in movement disorders?
    Pavel Filip
    Central European Institute of Technology, CEITEC MU, Behavioral and Social Neuroscience Research Group, Masaryk University, Brno, Czech Republic
    Clin Neurophysiol 124:1269-76. 2013
    Although dystonia has traditionally been regarded as a basal ganglia dysfunction, recent provocative evidence has emerged of cerebellar involvement in the pathophysiology of this enigmatic disease...
  16. ncbi Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    L Bonafe
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Clin Chem 47:477-85. 2001
    Dopa-responsive dystonia (DRD) and tetrahydrobiopterin (BH4) defects are inherited disorders characterized by monoamine neurotransmitter deficiency with decreased activity of one of the BH4-metabolizing enzymes...
  17. ncbi Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia
    Mai T Dang
    Department of Molecular and Integrative Physiology, NeuroTech Group, Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana Champaign, Urbana, IL 61801, USA
    Exp Neurol 196:452-63. 2005
    ..gene that encodes torsinA protein is implicated in the neurological movement disorder of Oppenheim's early-onset dystonia. The mutation removes a glutamic acid in the carboxy region of torsinA, a member of the Clp protease/heat shock ..
  18. pmc Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
    Manju A Kurian
    Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, United Kingdom
    J Clin Invest 119:1595-603. 2009
    ..Here, we analyzed 2 unrelated consanguineous families with infantile parkinsonism-dystonia (IPD) syndrome and identified homozygous missense SLC6A3 mutations (p.L368Q and p.P395L) in both families...
  19. ncbi Characterization of PLA2G6 as a locus for dystonia-parkinsonism
    Coro Paisan-Ruiz
    Laboratory of Neurogenetics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 65:19-23. 2009
    Although many recessive loci causing parkinsonism dystonia have been identified, these do not explain all cases of the disorder.
  20. ncbi Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    Patricia de Carvalho Aguiar
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Neuron 43:169-75. 2004
    Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism...
  21. ncbi Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation
    Nutan Sharma
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Neurosci 25:5351-5. 2005
    Primary early-onset generalized dystonia is an autosomal dominant disorder caused by a deletion (DeltaGAG) in the DYT1 gene encoding torsinA...
  22. ncbi Temporal discrimination of cross-modal and unimodal stimuli in generalized dystonia
    Salvatore M Aglioti
    Dipartimento di Psicologia, Universita di Roma La Sapienza, and IRCCS Fondazione Santa Lucia, Rome, Italy
    Neurology 60:782-5. 2003
    Motor and nonmotor timing functions and cross-modal processing of visual-tactile signals may be linked to basal ganglia. These neural structures are thought to be dysfunctional in dystonia.
  23. pmc Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
    L Timmermann
    Klinik und Poliklinik fur Neurologie, Uniklinik Köln, Kerpener Str 62, 50924 Köln, Germany
    Brain 133:701-12. 2010
    ..Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and ..
  24. pmc Deep brain stimulation effects in dystonia: time course of electrophysiological changes in early treatment
    Diane Ruge
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 26:1913-21. 2011
    Deep brain stimulation to the internal globus pallidus is an effective treatment for primary dystonia. The optimal clinical effect often occurs only weeks to months after starting stimulation...
  25. pmc Impaired sequence learning in dystonia mutation carriers: a genotypic effect
    Maren Carbon
    Centre for Neurosciences, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, New York 11030, USA
    Brain 134:1416-27. 2011
    Abnormalities in motor sequence learning have been observed in non-manifesting carriers of the DYT1 dystonia mutation...
  26. ncbi Abnormal cortical sensory activation in dystonia: an fMRI study
    Stephen Butterworth
    Department of Clinical Neurology, Queen s Medical Centre, Nottingham, United Kingdom
    Mov Disord 18:673-82. 2003
    Despite the obvious motor manifestations of focal dystonia, it is recognised that the sensory system plays an important role in this condition...
  27. pmc The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response
    Pan Chen
    Department of Biological Sciences, The University of Alabama, Tuscaloosa, AL 35487, USA
    Hum Mol Genet 19:3502-15. 2010
    Early-onset torsion dystonia is the most severe heritable form of dystonia, a human movement disorder that typically starts during a developmental window in early adolescence...
  28. ncbi "Jerky" dystonia in children: spectrum of phenotypes and genetic testing
    Friedrich Asmus
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 24:702-9. 2009
    Hyperkinetic dystonia is characterized by phasic, tremulous, and "jerky" movements in addition to twisting postures...
  29. ncbi Role of the somatosensory system in primary dystonia
    Michele Tinazzi
    Dipartimento di Scienze Neurologiche e della Visione, Sezione di Neurologia Riabilitativa, Verona, Italy
    Mov Disord 18:605-22. 2003
    The pathophysiology of dystonia is still not fully understood, but it is widely held that a dysfunction of the corticostriatal-thalamocortical motor circuits plays a major role in the pathophysiology of this syndrome...
  30. ncbi Transient dystonia following magnetic resonance imaging in a patient with deep brain stimulation electrodes for the treatment of Parkinson disease. Case report
    Jörg Spiegel
    Department of Neurology, Saarland University, Homburg Saar, Germany
    J Neurosurg 99:772-4. 2003
    ..In the following months, this focal movement disorder resolved completely. This case demonstrates the possible risks of MR imaging in patients with deep brain stimulators...
  31. ncbi Pathophysiology of dystonia
    Marie Vidailhet
    Federation de Neurologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Universite Pierre et Marie Curie PARIS6, INSERM, UMRS 975, CNRS UMR 7225, Paris, France
    Curr Opin Neurol 22:406-13. 2009
    In the past 18 months, several important studies in neuroimaging, epidemiology of dystonia and animal models have been published. Moreover, new advances in genetics have broadened the spectrum of dystonia...
  32. pmc Cerebellothalamocortical connectivity regulates penetrance in dystonia
    Miklos Argyelan
    Center for Neurosciences, The Feinstein Institute for Medical Research, North Shore Long Island Jewish Health System, Manhasset, New York 11030, USA
    J Neurosci 29:9740-7. 2009
    b>Dystonia is a brain disorder characterized by sustained involuntary muscle contractions. It is typically inherited as an autosomal dominant trait with incomplete penetrance...
  33. pmc Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, NY, USA
    Neurology 78:649-57. 2012
    To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research.
  34. ncbi Scaling of movement is related to pallidal γ oscillations in patients with dystonia
    Christof Brücke
    Department of Neurology, Campus Virchow, Charite University Medicine Berlin, 13353 Berlin, Germany
    J Neurosci 32:1008-19. 2012
    ..internus in patients undergoing deep brain stimulation for medically intractable primary focal and segmental dystonia might code specific motor parameters...
  35. ncbi Dopa-responsive dystonia: a clinical and molecular genetic study
    O Bandmann
    Institute of Neurology, London, UK
    Ann Neurol 44:649-56. 1998
    ..gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa-responsive dystonia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH-1 deficiency...
  36. ncbi Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
    Lena Elisabeth Hjermind
    Department of Medical Genetics, The Panum Institute, University of Copenhagen, and Department of Neurology, Rigshospitalet, Copenhagen, Denmark
    Mov Disord 21:679-82. 2006
    ..We conclude that the patient probably suffers from a variant of dopa-responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early-onset ..
  37. ncbi Temporal discrimination in patients with dystonia and tremor and patients with essential tremor
    Michele Tinazzi
    Department of Neurological, Psychological, Morphological and Motor Sciences, University of Verona, Verona, Italy
    Neurology 80:76-84. 2013
    To investigate whether psychophysical techniques assessing temporal discrimination could help in differentiating patients who have tremor associated with dystonia or essential tremor.
  38. ncbi Metoclopramide induced dystonia in children: two case reports
    Uluc Yis
    Department of Pediatrics, Dokuz Eylul University, School of Medicine, Department of Pediatrics, Izmir, Turkey
    Eur J Emerg Med 12:117-9. 2005
    ..The adverse effects of the drug can be seen at normal doses. These dystonic reactions caused by metaclopramide can easily be confused with other diseases, because dystonia is not seen frequently in paediatric practice whatever the cause.
  39. ncbi Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration
    L Guo
    Howard Hughes Medical Institute, University of Chicago, Illinois 60637, USA
    Cell 81:233-43. 1995
    ..Unexpectedly, the mice also develop severe dystonia and sensory nerve degeneration typical of dystonia musculorum (dt/dt) mice...
  40. ncbi Sensorimotor overactivity as a pathophysiologic trait of embouchure dystonia
    B Haslinger
    Neurologische Klinik, Klinikum rechts der Isar, Technische Universitat Munchen, Ismaninger Strasse 22, D 81675 Munchen, Germany
    Neurology 74:1790-7. 2010
    Embouchure dystonia is a focal task-specific dystonia affecting the complex interplay of lower facial, jaw, and tongue muscles in musicians playing brass or woodwind instruments...
  41. ncbi Abnormal plasticity in dystonia: Disruption of synaptic homeostasis
    Angelo Quartarone
    Department of Neuroscience, Psychiatry and Anesthesiological Sciences, University of Messina, Italy
    Neurobiol Dis 42:162-70. 2011
    Work over the past two decades lead to substantial changes in our understanding of dystonia, which was, until recently, considered an exclusively sporadic movement disorder...
  42. ncbi The role of torsinA in dystonia
    A Granata
    Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, UK
    Eur J Neurol 17:81-7. 2010
    DYT1 dystonia is an autosomal-dominant movement disorder, characterised by early onset of involuntary sustained muscle contractions...
  43. ncbi Botulinum toxin changes intrafusal feedback in dystonia: a study with the tonic vibration reflex
    Carlo Trompetto
    Dipartimento di Neuroscienze, Oftalmologia e Genetica, Universita di Genova, Italia
    Mov Disord 21:777-82. 2006
    ..The action on intrafusal fibers could alter sensorimotor integration, thus contributing to the clinical benefits of BT-A injection...
  44. ncbi Mutations of GCH1 in Dopa-responsive dystonia
    U Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Federal Republic of Germany
    J Neural Transm 109:321-8. 2002
    Dopa responsive dystonia (DRD) is an autosomal dominant dystonia caused by mutations in the gene GCH1 in about 50% of cases...
  45. pmc Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study
    Maren Carbon
    Centre for Neurosciences, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, New York 11030, USA
    Brain 133:690-700. 2010
    Neurophysiological studies have provided evidence of primary motor cortex hyperexcitability in primary dystonia, but several functional imaging studies suggest otherwise...
  46. ncbi Intracortical excitability in the hand motor representation in hand dystonia and blepharospasm
    Martin Sommer
    Department of Clinical Neurophysiology, University of Gottingen, Gottingen, Germany
    Mov Disord 17:1017-25. 2002
    ..of inhibiting and facilitating cortical circuits in areas surrounding a hand muscle motor representation in focal dystonia and in controls...
  47. ncbi Paroxysmal autonomic instability with dystonia after brain injury
    James A Blackman
    Kluge Children s Rehabilitation Center, Department of Pediatrics, University of Virginia, Charlottesville 22903, USA
    Arch Neurol 61:321-8. 2004
    ..through literature review and our own case series, we propose the term paroxysmal autonomic instability with dystonia. We reviewed reports of autonomic dysregulation after brain injury and extracted essential features...
  48. pmc Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope
    Lisa M Giles
    Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322 3090, USA
    Hum Mol Genet 17:2712-22. 2008
    ..loss of a glutamate residue at position 302 or 303 (torsinA DeltaE) is the major cause for early-onset torsion dystonia (DYT1)...
  49. pmc Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia
    Francesco Napolitano
    CEINGE Biotecnologie Avanzate, Naples, Italy
    Neurobiol Dis 38:434-45. 2010
    DYT1 dystonia is an inherited disease linked to mutation in the TOR1A gene encoding for the protein torsinA...
  50. pmc Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo
    Jeff Hewett
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02129, USA
    J Neurochem 113:228-35. 2010
    Early onset torsion dystonia (DYT1), the most common form of hereditary primary dystonia, is caused by a mutation in the TOR1A gene, which codes for the protein, torsinA...
  51. pmc Ablation of D1 dopamine receptor-expressing cells generates mice with seizures, dystonia, hyperactivity, and impaired oral behavior
    Ilse Gantois
    Howard Florey Institute, University of Melbourne, Melbourne 3010, Australia
    Proc Natl Acad Sci U S A 104:4182-7. 2007
    ..Mutant mice had normal gait and rotarod performance but displayed hindlimb dystonia, locomotor hyperactivity, and handling-induced electrographically verified spontaneous seizures...
  52. pmc LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation
    Abigail B Vander Heyden
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Biol Cell 20:2661-72. 2009
    TorsinA (TorA) is an AAA+ ATPase in the endoplasmic reticulum (ER) lumen that is mutated in early onset DYT1 dystonia. TorA is an essential protein in mice and is thought to function in the nuclear envelope (NE) despite localizing ..
  53. ncbi Neuronal activity in the basal ganglia and thalamus in patients with dystonia
    Ping Zhuang
    Beijing Institute of Functional Neurosurgery, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, China
    Clin Neurophysiol 115:2542-57. 2004
    To explore the role of abnormal neuronal activity in the basal ganglia and thalamus in the generation of dystonia.
  54. ncbi Sensory functions in dystonia: insights from behavioral studies
    Michele Tinazzi
    Department of Neurological and Vision Sciences, University of Verona, Verona, Italy
    Mov Disord 24:1427-36. 2009
    The pathophysiology of primary dystonia is thought to involve dysfunction of the basal ganglia cortico-striatal-thalamo-cortical motor circuits...
  55. ncbi Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation
    Andrea Gropman
    Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Med Genet A 124:377-82. 2004
    Leber hereditary optic neuropathy (LHON)/pediatric onset dystonia is associated with a G to A transition at nucleotide position (np) 14459, within the mitochondrial DNA (mtDNA)-encoded ND6 gene...
  56. ncbi A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube
    R Kothary
    Division of Molecular and Developmental Biology, Mount Sinai Hospital Research Institute, Toronto, Ontario, Canada
    Nature 335:435-7. 1988
    ..neural tissue and where the transgene insertion has caused a mutation of a neural tissue-specific gene, dystonia musculorum (dt)...
  57. ncbi Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
    K Grundmann
    Department of Medical Genetics, University of Tuebingen, Calwerstr 7, 72076 Tuebingen, Germany
    Neurobiol Dis 27:190-206. 2007
    Primary torsion dystonia is an autosomal-dominant inherited movement disorder. Most cases are caused by an in-frame deletion (GAG) of the DYT1 gene encoding torsinA...
  58. ncbi Impaired sensorimotor integration in focal hand dystonia patients in the absence of symptoms
    C Carolyn Wu
    Department of Psychology, Research Centre for Cognitive Neuroscience, The University of Auckland, Private Bag 92019, Auckland Mail Centre, Auckland 1142, New Zealand
    J Neurol Neurosurg Psychiatry 81:659-65. 2010
    Functional imaging studies of people with focal hand dystonia (FHD) have indicated abnormal activity in sensorimotor brain regions. Few studies however, have examined FHD during movements that do not provoke symptoms of the disorder...
  59. ncbi Spontaneous pallidal neuronal activity in human dystonia: comparison with Parkinson's disease and normal macaque
    Philip A Starr
    Dept of Neurological Surgery, University of California, San Francisco, 505 Parnassus Ave, 779 Moffitt, San Francisco, CA 94143, USA
    J Neurophysiol 93:3165-76. 2005
    b>Dystonia is a movement disorder defined by sustained muscle contractions, causing twisting and repetitive movements and abnormal postures...
  60. pmc Abnormal sensorimotor plasticity in organic but not in psychogenic dystonia
    A Quartarone
    Clinica Neurologica 2, Policlinico Universitario, Messina, Italy
    Brain 132:2871-7. 2009
    b>Dystonia is characterized by two main pathophysiological abnormalities: 'reduced' excitability of inhibitory systems at many levels of the sensorimotor system, and 'increased' plasticity of neural connections in sensorimotor circuits at a ..
  61. ncbi A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
    Patricia Blanco-Arias
    Universidad de Santiago de Compostela, Santiago de Compostela, Spain
    Hum Mol Genet 18:2370-7. 2009
    ..Mutations in ATP1A3 encoding the alpha3 isoform cause rapid-onset dystonia-parkinsonism (RDP)...
  62. ncbi Focal dystonia: advances in brain imaging and understanding of fine motor control in musicians
    Eckart Altenmüller
    University for Music and Drama, Hannover Institute for Music Physiology and Musicians Medicine, Hohenzollernstr 47, Hannover D 30161, Germany
    Hand Clin 19:523-38, xi. 2003
    ..In rare cases, overuse of movement patterns may induce a degradation of motor memory that results in a loss of voluntary control of movements, called musician's cramp. Specific therapeutic options for this condition are reviewed...
  63. pmc Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
    Jeffrey W Hewett
    Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 104:7271-6. 2007
    ..in the lumen of the endoplasmic reticulum (ER) and nuclear envelope responsible for early onset torsion dystonia (DYT1)...
  64. pmc Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    D D De Vries
    Department of Pediatrics and Human Genetics, University Hospital Nijmegen, The Netherlands
    Am J Hum Genet 58:703-11. 1996
    A rare form of Leber hereditary optic neuropathy (LHON) that is associated with hereditary spastic dystonia has been studied in a large Dutch family...
  65. ncbi Management of dystonia of the lateral pterygoid muscle with botulinum toxin A
    R Amaral Mendes
    Department of Oral Surgery, University of Porto, Faculty of Dental Medicine, Porto, Portugal
    Br J Oral Maxillofac Surg 47:481-3. 2009
    Oromandibular dystonia (OMD) is a rare neurological condition infrequently seen by oral and maxillofacial surgeons which may result in inappropriate deviation of the mandible, subluxation and intraoral soft tissue trauma...
  66. ncbi The kynurenine 3-hydroxylase inhibitor Ro 61-8048 improves dystonia in a genetic model of paroxysmal dyskinesia
    Angelika Richter
    Institute of Pharmacology and Toxicology, School of Veterinary Medicine, Freie Universitat Berlin, Koserstr 20, 14195 Berlin, Germany
    Eur J Pharmacol 478:47-52. 2003
    ..inhibitor 3,4-dimethoxy-N-[4-(3-nitrophenyl)thiazol-2-yl]benzenesulfonamide (Ro 61-8048) on severity of dystonia were examined in dt(sz) mutant hamsters, an animal model of paroxysmal dystonia, in which stress precipitates ..
  67. ncbi Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms
    Vivien Rodacker
    Department of Physiology, Institute of Physiology and Biophysics, University of Aarhus, DK 8000 Aarhus C, Denmark
    J Biol Chem 281:18539-48. 2006
    ..Recently, missense mutations in the Na(+),K(+)-ATPase were found associated with familial rapid-onset dystonia parkinsonism (FRDP)...
  68. ncbi Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia
    C Isaac
    Clinical Neuropsychology Services, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK
    Arch Dis Child 93:239-40. 2008
    Pantothenate kinase-associated neurodegeneration is associated with generalised dystonia and cognitive deterioration. Limited evidence suggests that pallidal deep brain stimulation improves physical functioning...
  69. ncbi Chronology of behavioral symptoms and neuropathological sequela in R6/2 Huntington's disease transgenic mice
    Edward C Stack
    Geriatric Research Education and Clinical Center, Bedford Veterans Administration Medical Center, Bedford, Massachusetts 01730, USA
    J Comp Neurol 490:354-70. 2005
    ....
  70. ncbi Hereditary progressive dystonia with marked diurnal fluctuation
    M Segawa
    Segawa Neurological Clinic for Children, 2 8 Surugadai Kanda, Chiyoda ku, 101 0062, Tokyo, Japan
    Brain Dev 22:S65-80. 2000
    Hereditary progressive dystonia with marked diurnal fluctuation or the strictly defined dopa-responsive dystonia (HPD/DRD) is an autosomally dominantly inherited dystonia caused by abnormalities of the gene of the GTP cyclohydrolase I (..
  71. ncbi Abnormal cerebellar signaling induces dystonia in mice
    Carolyn E Pizoli
    Department of Pharmacology, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA
    J Neurosci 22:7825-33. 2002
    b>Dystonia is a relatively common neurological syndrome characterized by twisting movements or sustained abnormal postures...
  72. ncbi Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
    Saskia B Wortmann
    Department of Pediatrics, Radboud University Nijmegen Medical Centre RUNMC, Nijmegen, The Netherlands
    Nat Genet 44:797-802. 2012
    Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria...
  73. ncbi Update on dystonia
    Alberto Albanese
    Neurologia I, Fondazione IRCCS Istituto Neurologico Carlo Besta, Universita Cattolica del Sacro Cuore, Milano, Italy
    Curr Opin Neurol 25:483-90. 2012
    This review considers the recent literature pertaining to the clinical features, genetics, neuropathology and treatment of dystonia syndromes.
  74. ncbi Pathology of idiopathic dystonia: findings from genetic animal models
    A Richter
    Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Hannover, Germany
    Prog Neurobiol 54:633-77. 1998
    b>Dystonia is a common movement disorder which is thought to represent a disease of the basal ganglia. However, the pathogenesis of the idiopathic dystonias, i.e. the neuroanatomic and neurochemical basis, is still a mystery...
  75. ncbi EFNS guidelines on diagnosis and treatment of primary dystonias
    A Albanese
    Istituto Neurologico Carlo Besta, Milan, Italy Università Cattolica del Sacro Cuore, Milan, Italy
    Eur J Neurol 18:5-18. 2011
    ..to provide a revised version of earlier guidelines published in 2006...
  76. ncbi Battery lifetime in pallidal deep brain stimulation for dystonia
    C Blahak
    Department of Neurology, UMM UniversitätsMedizin Mannheim, University of Heidelberg, Mannheim, Germany
    Eur J Neurol 18:872-5. 2011
    ..lifetime of Soletra implantable pulse generators (IPG) in deep brain stimulation (DBS) of the globus pallidus internus (GPi) for dystonia, depending on stimulation parameters and the total electrical energy delivered (TEED) by the IPG.
  77. ncbi Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia
    Yoshiaki Furukawa
    Movement Disorders Research Laboratory, Centre for Addiction and Mental Health Clarke Division, Toronto, Ontario, Canada
    Ann Neurol 51:637-41. 2002
    It is assumed that brain biopterin and dopamine loss should not be as severe in asymptomatic dopa-responsive dystonia caused by GCH1 mutations as it is in symptomatic dopa-responsive dystonia...
  78. pmc THAP1 mutations and dystonia phenotypes: genotype phenotype correlations
    Georgia Xiromerisiou
    Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology, London, London, United Kingdom Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
    Mov Disord 27:1290-4. 2012
    ..of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns...
  79. ncbi High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia
    Yah Huei Wu-Chou
    Human Molecular Genetics Laboratory, Department of Medical Research, Chang Gung Memorial Hospital and Chang Gung University, Taipei, Taiwan
    Am J Med Genet B Neuropsychiatr Genet 153:903-8. 2010
    Large deletions in the GCH1 gene have been reported in a minority of cases of dopa-responsive dystonia (DRD). In this study, we performed an extensive clinical and genetic investigation of 22 affected members in eight families...
  80. ncbi Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13
    P L Kramer
    Department of Neurology, Oregon Health Sciences University, Portland 97201, USA
    Ann Neurol 46:176-82. 1999
    Rapid-onset dystonia-parkinsonism (RPD) is an autosomal dominant movement disorder characterized by sudden onset of persistent dystonia and parkinsonism, generally during adolescence or early adulthood...
  81. pmc Plasticity of cortical inhibition in dystonia is impaired after motor learning and paired-associative stimulation
    Sabine Meunier
    Human Motor Control Section, National Institute of Neurological Disorders and Stroke NINDS, National Institutes of Health, Bethesda, MD, USA
    Eur J Neurosci 35:975-86. 2012
    ..In a group of 17 patients with focal hand dystonia and a group of 19 HV, we evaluated how PAS and the learning of a simple motor task influence the circuits ..
  82. doi Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, 72086 Tübingen, Germany
    Neurology 70:2261-2. 2008
  83. ncbi Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report
    Atsushi Umemura
    Department of Neurosurgery, Penn Neurological Institute at Pennsylvania Hospital, University of Pennsylvania, Philadelphia, Pennsylvania 19107, USA
    J Neurosurg 100:706-9. 2004
    Generalized dystonia is one of the most disabling movement disorders. Ablative stereotactic surgery such as pallidotomy has been performed for medically refractory dystonia...
  84. ncbi Off-period dystonia in Parkinson's disease but not generalized dystonia is improved by high-frequency stimulation of the subthalamic nucleus
    Olivier Detante
    Department of Biological and Clinical Neurosciences, INSERM, Joseph Fourier University, Department of Neurology, CHU Grenoble, Grenoble, France
    Adv Neurol 94:309-14. 2004
    STN-HFS is well known to improve patients with IPD. Because off-period dystonia mimics focal or generalized dystonia of other causes, we proposed bilateral STN-HFS to some patients with generalized dystonia...
  85. ncbi Homozygous THAP1 mutations as cause of early-onset generalized dystonia
    Susanne A Schneider
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 26:858-61. 2011
    To identify the underlying genetic cause in a consanguineous family with apparently recessively inherited dystonia, we performed genome-wide homozygosity mapping...
  86. ncbi On muscle spindles, dystonia and botulinum toxin
    R L Rosales
    Department of Neurology and Psychiatry, University of Santo Tomas, Sampaloc, Metro Manila, Philippines
    Eur J Neurol 17:71-80. 2010
    b>Dystonia may produce co-contractions and constant strain in numerous muscle fibers, including those of the muscle spindles...
  87. ncbi A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
    H Jin
    Division of Medical and St Thomas s London, UK
    Nat Genet 14:177-80. 1996
    ..progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness...
  88. pmc Animal models of generalized dystonia
    Robert S Raike
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    NeuroRx 2:504-12. 2005
    b>Dystonia is a prevalent neurological disorder characterized by abnormal co-contractions of antagonistic muscle groups that produce twisting movements and abnormal postures...
  89. ncbi Experimental models of dystonia
    Annalisa Tassone
    Department of Neuroscience, University Tor Vergata, Rome, Italy
    Int Rev Neurobiol 98:551-72. 2011
    b>Dystonia is a disabling movement disorder characterized by involuntary, sustained muscle contractions, with repetitive twisting movements and abnormal postures...
  90. ncbi Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
    H Grötzsch
    Department of Neurology, University Hospital, Geneva, Switzerland
    Neurology 58:1839-42. 2002
    Detailed autopsy findings are reported for a patient with dopa-responsive dystonia genetically related to the dopa-responsive dystonia locus DYT14 on chromosome 14q13...
  91. pmc Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    Lancet Neurol 8:441-6. 2009
    Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent...
  92. ncbi Adult-onset dystonia
    Marian L Evatt
    Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Handb Clin Neurol 100:481-511. 2011
    b>Dystonia is defined as involuntary sustained muscle contractions producing twisting or squeezing movements and abnormal postures...
  93. ncbi Shaping reversibility? Long-term deep brain stimulation in dystonia: the relationship between effects on electrophysiology and clinical symptoms
    Diane Ruge
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, 33 Queen Square, London WC1N3BG, UK
    Brain 134:2106-15. 2011
    Long-term results show that benefits from chronic deep brain stimulation in dystonia are maintained for many years...
  94. ncbi Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    P M Knappskog
    Department of Biochemistry and Molecular Biology, University of Bergen, Norway
    Hum Mol Genet 4:1209-12. 1995
    ..a point mutation in hTH (Q381K) in a family of two siblings suffering from progressive L-DOPA-responsive dystonia (DRD), representing the first reported mutation in this gene...
  95. ncbi Somatosensory representation of the digits and clinical performance in patients with focal hand dystonia
    A L McKenzie
    Department of Physical Therapy, Chapman University, Orange, California 92866, USA
    Am J Phys Med Rehabil 82:737-49. 2003
    ..differences in somatosensory organization and sensorimotor function of the hand in patients with focal hand dystonia, a target-specific disorder of voluntary movement that interferes with fine motor control during the performance ..
  96. ncbi Abnormalities of spatial discrimination in focal and generalized dystonia
    F M Molloy
    Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892 1428, USA
    Brain 126:2175-82. 2003
    Sensory processing is impaired in focal hand dystonia (FHD), with most previous studies having evaluated only the symptomatic limb...
  97. ncbi Botulinum toxin for treatment of dystonia
    D Dressler
    Department of Neurology, Hannover Medical School, Hannover, Germany
    Eur J Neurol 17:88-96. 2010
    Botulinum toxin (BT) is used in various medical specialties. However, dystonia is still one of the most important indications for BT therapy. BT drugs consist of botulinum neurotoxin, complexing proteins and excipients...
  98. pmc Purification of fully activated Clostridium botulinum serotype B toxin for treatment of patients with dystonia
    Hideyuki Arimitsu
    Department of Bacteriology, Okayama University Graduate School of Medicine and Dentistry, Okayama 700 8558, Japan
    Infect Immun 71:1599-603. 2003
    ..0; the neurotoxin passed through the column, whereas remaining nontoxic components bound to the column. The toxicity of this purified fully activated neurotoxin was retained for a long period by addition of albumin in the preparation...
  99. pmc Identification and functional analysis of novel THAP1 mutations
    Katja Lohmann
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 20:171-5. 2012
    Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1...
  100. ncbi Cognitive executive function in dystonia
    Marjan Jahanshahi
    Sobell Research Department of Motor, Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 18:1470-81. 2003
    b>Dystonia is a movement disorder considered to result from basal ganglia dysfunction...
  101. ncbi Patterning of globus pallidus local field potentials differs between Parkinson's disease and dystonia
    Paul Silberstein
    Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London WCIN 3BG, UK
    Brain 126:2597-608. 2003
    ..of synchronized neuronal activity in the pallidum that characterize untreated and treated parkinsonism and dystonia. To this end we recorded local field potentials (LFPs) from the caudal and rostral contact pairs of ..

Research Grants83

  1. Exome re-sequencing candidate loci for familial essential tremor
    Barry E Kosofsky; Fiscal Year: 2012
    ..North American families are linked to ETM3 loci with the largest family showing a mixed phenotype that includes dystonia in addition to ET...
  2. Characterization of epsilon-sarcoglycan interacting proteins in mouse brain
    Yuqing Li; Fiscal Year: 2012
    ..b>Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, ..
  3. Protection of Brain Injury from Cyanide Poisoning by Carnosic Acid
    Stuart A Lipton; Fiscal Year: 2013
    ..treatment, acute or chronic cyanide intoxication in humans can induce a delayed neurological syndrome, including dystonia. Typically, these patients show Parkinsonian symptoms after weeks to months, with progressive rigidity and ..
  4. Computer/Electrical Engineering
    Theodore Raphan; Fiscal Year: 2011
    ..to present visual laser targets in random order for studies of head movement control in normals and patients with dystonia. Specific Aim 2: Do software and hardware maintenance...
  5. RNA interference therapy for Huntington's disease: studies in non-human primates
    Beverly L Davidson; Fiscal Year: 2010
    ..Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (Lou Gherig's disease), dystonia, spinocerebellar ataxias and Rett's Syndrome...
  6. FASEB SRC on Mitochondrial Assembly &Dynamics in Health, Disease &Aging
    Antoni Barrientos; Fiscal Year: 2011
    ..and this can lead to a myriad of clinical phenotypes ranging from ataxia, seizures, blindness, myoclonus, dystonia, deafness, and diabetes...
  7. Dopamine D1 Receptor in mouse models of primary dystonia
    Laurie J Ozelius; Fiscal Year: 2013
    ..torsion dystonias (PTD) are a group of movement disorders characterized by twisting muscle contractures, with dystonia as the only clinical sign (except for tremor) and in the absence of neuronal degeneration or an acquired cause...
  8. Scheduled and Responsive Brain Stimulation for the Treatment of Tourette Syndrome
    Michael S Okun; Fiscal Year: 2010
    ..DBS has been utilized for addressing basal ganglia disorders such as Parkinson disease, essential tremor, and dystonia, these diseases differ fundamentally from TS...
  9. The Role of THAP1 in Dystonia
    Mark S Ledoux; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Dystonia has been defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or abnormal postures...
  10. A Conserved G-rich Region within Human TH Promoter Regulates Its Activity
    Soumitra Basu; Fiscal Year: 2011
    ..its deficiency is also associated with a broad spectrum of phenotype ranging from TH-deficient dopa-responsive dystonia (DRD) at the mild end to a levodopa-unresponsive infantile parkinsonism or progressive infantile encephalopathy ..
  11. Treatment for Dysmyelination in PMD and SPG2
    Pamela E Knapp; Fiscal Year: 2013
    ..PMD patients experience early nystagmus, dystonia, and fail to meet developmental motor milestones...
  12. Genetics and Biology of CIZ1 in Cervical Dystonia
    Mark S Ledoux; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Dystonia is a common disorder, mainly seen by neurologists, and defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting ..
  13. Genetics and biology of a viable mutant mouse with dystonic movements
    Kathleen J Sweadner; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Dystonia is a debilitating clinical condition in which the normal control of movement is subverted by an overflow of muscle activation...
  14. Rapid-onset Dystonia Parkinsonism (DYT12 Dystonia): Pathophysiology &Atp1a3 Mice
    Yuqing Li; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): DYT12 is a rapid-onset dystonia with parkinsonism (RDP). DYT12 patients have both generalized dystonia and parkinsonian symptoms...
  15. Investigating readout of cerebellar synchrony in delay eyeblink conditioning
    ALEXANDER D KLOTH; Fiscal Year: 2013
    ..The afflictions have classically involved motor disorders, such as cerebellar ataxia and cerebellar dystonia, but may also involve cognitive disorders that have well-known cerebellar anatomical deficits, such as dyslexia, ..
  16. Biogenic Amine Transporters: Mechanisms of Ligand Interaction
    MAARTEN E REITH; Fiscal Year: 2013
    ..be linked with Dopamine Transporter Deficiency Syndrome (DTDS), an inherited early-onset infantile parkinsonism-dystonia. The long-term objectives of the project are to better understand biogenic amine transporter structure-function, ..
  17. The mechanistic basis of non-invasive deep brain stimulation by ultrasound
    MERRITT C MADUKE; Fiscal Year: 2012
    ..therapies are currently used to treat several types of neurological disorders (Parkinson's disease, dystonia, eplilepsy) and hold promise for treatment of many others (Alzheimer's, anxiety, schizophrenia, and stroke, ..
  18. MOLECULAR ETIOLOGY OF EARLY ONSET TORSION DYSTONIA
    XANDRA OWENS BREAKEFIELD; Fiscal Year: 2013
    Torsion dystonia is one of the most common and least well understood movement disorder in humans. Affected individuals manifest contracted twisting movements and abnormal postures, which can be crippling...
  19. ROLE OF DOPAMINE RECEPTORS IN PRIMARY FOCAL DYSTONIAS
    Morvarid Karimi; Fiscal Year: 2013
    ..b>Dystonia is an involuntary movement disorder characterized by repetitive patterned or sustained muscle contractions ..
  20. Dystonia Coalition
    Hyder A Jinnah; Fiscal Year: 2013
    The overall goal of the Dystonia Coalition is to develop a program to facilitate collaborations that will advance the pace of clinical research for the dystonias, a group of neurological disorders characterized by involuntary twisting ..
  21. Cortical and basal ganglia local field potentials in human movement disorders
    Philip A Starr; Fiscal Year: 2012
    ..primary motor (M1) and primary sensory (S1) cortex LFPs in patients with a basal ganglia disorder (PD and primary dystonia), with two comparison groups without basal ganglia pathology (essential tremor (ET) and epilepsy)...
  22. Structure and function of the fingers tendinous apparatus
    Francisco J Valero-Cuevas; Fiscal Year: 2013
    ..on-line supraspinal modulation;and (ii) understand how botulinum toxin (BTX) injections to reduce spasticity and dystonia in hemiplegic CP and iSCI interact with that circuitry...
  23. Organization and Function of Striatal Microcircuits in Health and Disease
    ARYN HILARY GITTIS; Fiscal Year: 2012
    ..underlie movement disorders such as Parkinson's disease, Huntington's disease, Tourette syndrome, and dystonia. My long-term goal is to identify cellular mechanisms of direct and indirect pathway regulation to better ..
  24. Organization and Function of Striatal Microcircuits in Health and Disease
    ARYN HILARY GITTIS; Fiscal Year: 2013
    ..underlie movement disorders such as Parkinson's disease, Huntington's disease, Tourette syndrome, and dystonia. My long-term goal is to identify cellular mechanisms of direct and indirect pathway regulation to better ..
  25. Kinaesthetic Loss as a Marker for Spasmodic Dysphonia
    Peter J Watson; Fiscal Year: 2012
    ..SD is believed neurogenic in origin and shares some symptoms with focal dystonia (FD) of the head and neck...
  26. Deep Brain Stimulation in the Parkinsonian Monkey
    Jerrold L Vitek; Fiscal Year: 2012
    ..PD and renewed the exploration of surgical therapy for a wide range of neurological disorders including tremor, dystonia, obsessive compulsive disorder, depression, Tourette syndrome, addiction, pain and epilepsy...
  27. Pathophysiology of dystonia: animal models
    Ellen J Hess; Fiscal Year: 2010
    b>Dystonia is a common neurological disorder broadly characterized by sustained simultaneous contractions of agonist and antagonist muscles. The general goal of our research is to understand the pathophysiology of dystonia...
  28. Determining Functions of a Brainstem Pre-motor Module In Masticatory Jaw Movement
    EDWARD JOHN STANEK; Fiscal Year: 2013
    ..in several neurological disorders such as bruxism, temporomandibular joint disorders, and oromandibular dystonia. Thus, understanding the neural control of masticatory movements is essential for future development of effective ..
  29. TorsinA influences GABA neuron migration and dopamine neuron development: Implic
    Pradeep G Bhide; Fiscal Year: 2010
    ..These two neurotransmitter systems and brain regions are implicated in the pathophysiology of early onset torsion dystonia (also called DYT1 dystonia), which is associated with mutations in the DYT1 gene...
  30. Distal effects of botulinum neurotoxins
    Edwin R Chapman; Fiscal Year: 2013
    ..BoNT/A and BoNT/B are also used clinically to treat a wide range of serious medical conditions, including dystonia and pain;this represents a two billion dollar per year industry...
  31. TorsinA and Nuclear Envelope Function in HSV Infection
    Richard J Roller; Fiscal Year: 2013
    ..Mutation of the gene encoding torsinA results in a neuromuscular disease called early-onset torsion dystonia, and the mechanism of disease is unclear...
  32. Elucidating and understanding the genetic basis of movement disorders
    Coro Paisan-Ruiz; Fiscal Year: 2013
    ..defined as disorders in which patients are affected by more than one movement disorder (such as parkinsonism and dystonia, or myoclonus and tremor), are a continuing challenge for diagnosis and treatment...
  33. L-DOPA-induced dyskinesias and dysregulation of striatopallidal neurons
    STEVEN MICHAEL GRAVES; Fiscal Year: 2013
    ..However, chronic L-DOPA therapy leads to uncontrolled motor side effects such as chorea, dystonia, and/or athetosis, i.e. LIDs...
  34. Signature-based chemical screening for DYT6 dystonia
    DAVID CRISTOPHER BRAGG; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): DYT6 dystonia is a hereditary movement disorder for which few treatment options exist...
  35. BIOGENESIS OF THE MITOCHONDRIAL INNER MEMBRANE
    Carla M Koehler; Fiscal Year: 2013
    ..The X-linked disease Mohr-Tranebjaerg syndrome or deafness-dystonia syndrome is caused by a specific defect in the import of inner membrane proteins...
  36. Cerebellar stimulation for the treatment of dystonia: preclinical studies
    Ellen J Hess; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Dystonia is characterized by excessive involuntary muscle contractions that cause abnormal postures and twisting movements. Current treatments for dystonia are largely unsatisfactory or palliative...
  37. M1 and M4 mAChRs in striatum-implication in treatment of movement disorders
    Zixiu Xiang; Fiscal Year: 2013
    ..and are still in clinic use for this disorder and are among the most effective drugs available for treatment of dystonia. However, clinical utility of these compounds is limited by the severe central and peripheral adverse effects ..
  38. Diagnostic Error in Dystonia
    Caroline M Tanner; Fiscal Year: 2010
    DESCRIPTION (provided by the PI): Primary dystonia, thought to be the third most common movement disorder, is a chronic neurological disease affecting all age groups and racial groups...
  39. Optogenetic dissection of striatal circuits in a mouse model of human dystonia
    Alexandra Nelson; Fiscal Year: 2013
    ..As the brains of such patients show no neuropath logical abnormalities, it is hypothesized that dystonia is a disease of abnormal circuit activity...
  40. The Frizzled Nuclear Import Pathway in Synapse Development
    VIVIAN G BUDNIK; Fiscal Year: 2013
    ..Our preliminary studies identify Torsin, a AAA-ATPase, which in humans is linked to early onset dystonia as a key element in the remodeling of nuclear membranes required for budding...
  41. Pathophysiology of Dystonia
    Mark S Baron; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The proposed study "Pathophysiology of dystonia" was designed with the goal of improving our understanding of dystonia and ultimately, developing improved therapies for this devastating condition...
  42. A Cell-based Assay for Botulinum Neurotoxin Detection and Development
    Ward C Tucker; Fiscal Year: 2013
    ..and pharmaceutical applications and are currently FDA-approved for treating glabellar lines (wrinkles), cervical dystonia, chronic migraines, blepharospasm, cranial nerve VII disorders, and cosmoses...
  43. Pathophysiology of Spasmodic Dysphonia: a TMS study
    Teresa Jacobson Kimberley; Fiscal Year: 2013
    ..Adductor spasmodic Dysphonia (AdSD) is a type of focal dystonia that affects the muscles of the vocal cords and can severely impair the ability to speak...
  44. Regulation of the Na/K Pump by RNA Editing
    Joshua J C Rosenthal; Fiscal Year: 2013
    ..They might also be used as tools to compensate for rapid-onset dystonia parkinsonism, genetic disease associated with the human Na/Ka3 subunit...
  45. New Methods for the Expedited Synthesis of C11 and F18 PET Tracers
    Salvatore D Lepore; Fiscal Year: 2013
    ..baclofen is widely- used for the management of spasticity exhibited in multiple sclerosis, Tourette syndrome, and dystonia. Made possible by the new polymer-based method, the efficient radio synthesis of [11C] baclofen (and related ..
  46. Optogenetic Population Clamp to Study Long-term Plasticity in Vitro
    Robert J Butera; Fiscal Year: 2013
    ..high-amplitude electrical discharges from population bursting can manifest as seizures, chronic pain, dystonia, tinnitus, or other disabling symptoms, depending on which part of the nervous system has become hyper-excitable ..
  47. Voice tremor in spasmodic dysphonia: central mechanisms and treatment response
    Kristina Simonyan; Fiscal Year: 2013
    ..following the use of sodium oxybate, a novel pharmacological agent for treatment of ethanol-responsive dystonia. Our central hypothesis is that, compared to SD patients, SD/VT patients will have additional brain abnormalities ..
  48. MyoSense: Automated Muscle Hypertonicity Classification System
    JOSEPH GIUFFRIDA; Fiscal Year: 2012
    ..Development will focus on the growing clinical need to differentiate dystonia from spasticity in children affected by cerebral palsy (CP) and other mixed or secondary dystonias...
  49. Gene discovery in primary dystonia using whole exome sequencing
    Laurie J Ozelius; Fiscal Year: 2013
    ..torsion dystonias (PTD) are a group of movement disorders characterized by twisting muscle contractures, where dystonia is the only clinical sign and there is no evidence of neuronal degeneration or an acquired cause...
  50. Psychogenic Tremor: Functional Magnetic Resonance Study on Emotional Processing
    Alberto J Espay; Fiscal Year: 2013
    ..The candidate is seeking to capitalize on earlier work that concentrated on the electrophysiology of psychogenic dystonia, one of the common manifestations of PMD, which demonstrated for the first time abnormalities in inhibitory ..
  51. Anatomical and Physiological Characterization of the Thalamostriatal System
    KALYNDA GONZALES; Fiscal Year: 2012
    ..Abnormal TANs activity may also be a feature of movement disorders, such as dystonia and PD...
  52. FUNCTIONAL ANALYSIS OF TORSIN A
    Phyllis I Hanson; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Early-onset (DYT1) torsion dystonia is a devastating non-degenerative neurological movement disorder caused by autosomal dominant inheritance of a glutamic acid deletion in the protein torsinA (TOR1A),..
  53. The Role of a Cerebello-Thalamo-Basal Ganglia Pathway in Dystonia
    Rachel Fremont; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Dystonia is a movement disorder characterized by simultaneous and prolonged co-contraction of agonist and antagonist muscles, causing patients to adopt painful twisting postures...
  54. Structure-Function Relationships in Dystonia: A Network Approach
    David Eidelberg; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Primary dystonia, which often begins in late childhood or adolescence, has traditionally been attributed to basal ganglia dysfunction, but no specific histopathological lesions of these structures are ..
  55. Brain TorsinA and childhood-onset Dystonia
    Pullanipally Shashidharan; Fiscal Year: 2012
    DYT1 dystonia is a potentially disabling hyperkinetic movement disorder characterized by sustained or repetitive involuntary muscle contractions and/or abnormal postures...
  56. Optogenetic investigation of olivary inputs to the deep cerebellar nuclei
    Dieter Jaeger; Fiscal Year: 2012
    ..has been identified to be the primary cause in important motor disorders, notably ataxias, and some forms of dystonia. Nevertheless, at a fundamental level we do not understand how the cerebellum operates...
  57. FUNCTIONAL ANALYSIS OF TORSIN A
    Phyllis I Hanson; Fiscal Year: 2011
    Early-onset (DYT1) torsion dystonia is a devastating non-degenerative neurological movement disorder caused by autosomal dominant inheritance of a glutamic acid deletion in the protein torsinA (TOR1A), frequently referred to as the &#..
  58. Study of redox regulated pathways in the mitochondrion
    DEEPA VINAY DABIR; Fiscal Year: 2010
    ..dysfunction contributes to a broad range of muscular and neural disorders, including Parkinson's, deafness-dystonia syndrome, and Leigh's syndrome...
  59. FUNCTIONAL STUDY OF NATIVE AND SYNTHETIC NUCLEI
    DOUGLASS JANE FORBES; Fiscal Year: 2013
    ..an outer membrane counterpart, and potential fusases and/or mediators, such as Torsin A, mutated in human Torsin Dystonia, for creating the membrane channel...
  60. 2013 Parkinson's Study Group Symposium
    Michael A Schwarzschild; Fiscal Year: 2013
    ..MD, PhD Abstract The Parkinson Study Group (PSG), in collaboration with the Huntington Study Group (HSG), Dystonia Study Group (DSG), Tourette Syndrome Study Group (TSSG), Cooperative Ataxia Group (CAG), and Tremor Research ..
  61. CORTICAL CONTROL OF MOVEMENT
    Asaf Keller; Fiscal Year: 2010
    ..These include motor cortical infarcts, dystonia, and disorders of the basal ganglia...
  62. A Software Platform for Sensor-based Movement Disorder Recognition
    Gianluca De Luca; Fiscal Year: 2013
    ..g. dystonia, bradykinesia, Parkinsonian gait, tremor, dyskinesia), as well as for other neurological condition, such as ..
  63. GENETIC ANALYSIS OF PAROXYSMAL DYSTONIC CHOREOATHETOSIS
    John Fink; Fiscal Year: 2000
    ..into the cause and treatments of common movement disorders, including other paroxysmal dyskinesia, idiopathic dystonia, Tourette syndrome, Parkinson's disease, neuroleptic-induced tardive dyskinesia and extrapyramidal cerebral palsy...
  64. Dystonia in an Animal Model of Kernicterus
    Steven Shapiro; Fiscal Year: 2007
    ..In response to Program Announcement PA-02-156, "Studies into the causes and mechanisms of dystonia," we will use a classic animal model, the jaundiced Gunn rat, to systematically investigate the pathophysiology ..
  65. Glial Dysfunction in Ataxia Telangiectasia
    Margot Mayer Proschel; Fiscal Year: 2009
    ..Symptoms include sensitivity to ionizing radiation, oculomotor apraxia, chorea, athetosis, dystonia, peripheral neuropathy, infertility, translocations of chromosomes 7 and 14, underdeveloped thymus, and increased ..
  66. Mitochondrial Assembly and Dynamics in Health and Disease
    Carla Koehler; Fiscal Year: 2009
    ..and this can lead to a myriad of clinical phenotypes ranging from ataxia, seizures, blindness, myoclonus, dystonia, sideroblastic anemia, deafness, and diabetes...
  67. PALLIDAL PHYSIOLOGY IN HUMAN AND PRIMATE DYSTONIA
    PHILIP STARR; Fiscal Year: 2005
    DESCRIPTION (provided by applicant: Dystonia is a movement disorder defined as a syndrome of sustained muscle contractions, causing twisting and repetitive movements, and abnormal postures...
  68. DOUBLE-BLIND BOTULINUM TOXIN FOR SPASMODIC DYSPHONIA
    Mitchell Brin; Fiscal Year: 1991
    Botulinum Toxin for Spasmodic Dysphonia (Laryngeal Dystonia): Double Blind Placebo Controlled Assessment of Dose and Technique...
  69. Utah Center for Exploring Mind-Body Interactions (UCEMB*
    Yoshio Nakamura; Fiscal Year: 2006
    ..extends to awareness of all forms of somatic symptom, including fatigue, nausea, vertigo, dyskinesia, and dystonia. The proposed exploratory center has five central objectives...
  70. Predicting common protein mechanisms by the light of evolution
    ANDREW NEUWALD; Fiscal Year: 2009
    ..AAA+ ATPases are associated with hereditary spastic paraplegia and the neurologic disorders torsin dystonia, Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease...
  71. PET IN HYPERKINETIC DISORDERS--A MULTICENTER STUDY
    David Eidelberg; Fiscal Year: 2001
    Idiopathic torsion dystonia (ITD) and Huntington's disease (HD) are common hereditary hyperkinetic movement disorders affecting the basal ganglia...
  72. Neurokinin 3 Receptor: Nuclear Localization in Supraoptic Neurons
    CELIA SLADEK; Fiscal Year: 2009
    ..behaviors such as salt, cocaine and alcohol intake;emotional states such as anxiety and depression;locomotion and dystonia;fluid, electrolyte, and cardiovascular homeostasis;and analgesia...
  73. NEUROLEPTIC-INDUCED DYSKINESIAS AND DYSTONIAS
    Gaylord Ellison; Fiscal Year: 1992
    ..We have further found that a completely different, "primed dystonia" syndrome (large amplitude, rapid (4-7 Hz), gaping OMs) develops in rats given comparable neuroleptics but in a ..
  74. Deep Brain Stimulation Array for Neuromodulation
    RIO VETTER; Fiscal Year: 2007
    ..for treatment of Parkinson's Disease (PD) and Essential Tremor and is showing promise for treatment of dystonia, intractable epilepsy, major depression, and obsessive-compulsive disorder...
  75. Small molecule modulators for mitochondrial protein import
    Carla Koehler; Fiscal Year: 2009
    ..A defective TIM22 import pathway leads to the inherited disease, deafness-dystonia syndrome, which results in neurodegeneration...
  76. BASAL GANGLIA GENE EXPRESSION AND MOVEMENT DISORDERS
    Kalpana Merchant; Fiscal Year: 1993
    Development of motor side effects (e.g., acute dystonia, Parkinsonism, tardive dyskinesia) is a serious problem associated with majority of antipsychotic drugs (APDs) used for the treatment of acute and chronic psychoses...
  77. A Cell-based Assay for Botulinum Neurotoxin Detection and Development
    Ward C Tucker; Fiscal Year: 2010
    ..applications and are currently FDA-approved for the treatment of glabellar lines (wrinkles), cervical dystonia, blepharospasm, cranial nerve VII disorders, and cosmoses...
  78. NEUROIMAGING OF HYPERKINETIC MOVEMENT DISORDERS
    Michael Hutchinson; Fiscal Year: 2001
    ..of brain glucose metabolism, and has identified some of the underlying abnormal circuitry in idiopathic torsion dystonia and Parkinson's disease. Yet there studies require fairly large numbers of patients and normal controls...
  79. PURINE-DOPAMINE RELATIONSHIPS IN LESCH-NYHAN DISEASE
    HYDER JINNAH; Fiscal Year: 2001
    ..Affected patients have a characteristic neurobehavioral phenotype which includes dystonia, choreoathetosis, spasticity, cognitive disability, and aggressive and self-injurious behavior...
  80. Mechanism of neurodegeneration in dystonia musculorum
    RONALD LIEM; Fiscal Year: 2007
    DESCRIPTION (provided by applicant): The mutant mouse dystonia musculorum (dt) suffers from a severe hereditary sensory neuropathy. The mice display progressive loss of limb coordination starting in the second week of life...
  81. Sex differences in episodic neurologic disease
    HYDER JINNAH; Fiscal Year: 2009
    ..In the rocker mutants, transient attacks of disabling motor dysfunction resembling human paroxysmal dystonia occur frequently in female rockers, but are absent in males...
  82. Parkin function: Regulation of members of synaptotagmin
    Duong Huynh; Fiscal Year: 2009
    ..Inactivating mutations in the parkin gene cause autosomal recessive-juvenile Parkinson disease with dystonia (PARK2), but can also cause a later onset tremor-predominant disease indistinguishable from sporadic PD...
  83. EFFECT OF PERINATAL ASPHYXIA ON STRIATUM
    Robert Burke; Fiscal Year: 1993
    ..Little is known of the neural basis for dystonia, the predominant and most disabling movement disorder of CP...