cerebellar ataxia

Summary

Summary: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)

Top Publications

  1. pmc The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia
    Karina Alviña
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Neurosci 30:7258-68. 2010
  2. ncbi Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
    Maria Ceu Moreira
    IGBMC Centre National de la Recherche Scientifique, Institut National de la Sante et de la Recherche Medicale, ULP 67404 Illkirch, C U de Strasbourg, France
    Nat Genet 36:225-7. 2004
  3. pmc Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Proc Natl Acad Sci U S A 107:20822-7. 2010
  4. pmc A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery
    Kaisa Kyöstilä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    PLoS Genet 8:e1002759. 2012
  5. pmc Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study
    Nichola Zoe Lax
    Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom
    J Neuropathol Exp Neurol 71:148-61. 2012
  6. ncbi Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia
    Joy T Walter
    Department of Neuroscience, Albert Einstein College of Medicine, 506 Kennedy Center, 1410 Pelham Parkway South, Bronx, New York 10461, USA
    Nat Neurosci 9:389-97. 2006
  7. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
  8. ncbi Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    O Zhuchenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 15:62-9. 1997
  9. pmc Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich 81675, Germany
    Hum Mol Genet 21:2205-10. 2012
  10. pmc A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterization
    Sven Jarius
    Division of Molecular Neuroimmunology, Department of Neurology, University of Heidelberg, Heidelberg, Germany
    J Neuroinflammation 7:21. 2010

Detail Information

Publications331 found, 100 shown here

  1. pmc The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia
    Karina Alviña
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Neurosci 30:7258-68. 2010
    Episodic ataxia type 2 (EA2) is a hereditary cerebellar ataxia associated with mutations in the P/Q-type voltage-gated calcium (Ca(2+)) channels. Therapeutic approaches for treatment of EA2 are very limited...
  2. ncbi Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
    Maria Ceu Moreira
    IGBMC Centre National de la Recherche Scientifique, Institut National de la Sante et de la Recherche Medicale, ULP 67404 Illkirch, C U de Strasbourg, France
    Nat Genet 36:225-7. 2004
    ..Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination...
  3. pmc Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Proc Natl Acad Sci U S A 107:20822-7. 2010
    ..Together, the data suggest that clinical dementia in Danish patients occurs via a loss of function mechanism and not as a result of amyloidosis and tauopathy...
  4. pmc A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery
    Kaisa Kyöstilä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    PLoS Genet 8:e1002759. 2012
    ..The Finnish Hound suffers from an early-onset progressive cerebellar ataxia. We have performed clinical, pathological, and genetic studies to describe the disease phenotype and to ..
  5. pmc Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study
    Nichola Zoe Lax
    Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom
    J Neuropathol Exp Neurol 71:148-61. 2012
    b>Cerebellar ataxia is a prominent clinical symptom in patients with mitochondrial DNA (mtDNA) disease. This is often progressive with onset in young adulthood...
  6. ncbi Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia
    Joy T Walter
    Department of Neuroscience, Albert Einstein College of Medicine, 506 Kennedy Center, 1410 Pelham Parkway South, Bronx, New York 10461, USA
    Nat Neurosci 9:389-97. 2006
    ..Our data support the hypothesis that the precision of intrinsic pacemaking in Purkinje cells is essential for motor coordination and suggest that K(Ca) channels may constitute a potential therapeutic target in EA2...
  7. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
    An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population...
  8. ncbi Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    O Zhuchenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 15:62-9. 1997
    ..We conclude that a small polyglutamine expansion in the human alpha 1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6...
  9. pmc Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich 81675, Germany
    Hum Mol Genet 21:2205-10. 2012
    Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia...
  10. pmc A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterization
    Sven Jarius
    Division of Molecular Neuroimmunology, Department of Neurology, University of Heidelberg, Heidelberg, Germany
    J Neuroinflammation 7:21. 2010
    ..serum and cerebrospinal fluid (CSF) reactivity to Purkinje cells (PCs) associated with subacute inflammatory cerebellar ataxia. The patient, a previously healthy 33-year-old lady, presented with severe limb and gait ataxia, dysarthria, ..
  11. pmc Increased AβPP processing in familial Danish dementia patients
    Shuji Matsuda
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    J Alzheimers Dis 27:385-91. 2011
    ....
  12. pmc Autosomal recessive cerebellar ataxias
    Francesc Palau
    Genetics and Molecular Medicine Unit, Instituto de Biomedicina, CSIC, Jaume Roig, 11 46010 Valencia, Spain
    Orphanet J Rare Dis 1:47. 2006
    ..5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common...
  13. ncbi Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    Francois Gros-Louis
    Centre for the Study of Brain Diseases, Universite de Montreal, Montreal, Quebec, H2L 4M1, Canada
    Nat Genet 39:80-5. 2007
    ..discovered form of recessive ataxia in a French-Canadian cohort and show that SYNE1 mutations are causative in all of our kindreds, making SYNE1 the first identified gene responsible for a recessively inherited pure cerebellar ataxia.
  14. pmc Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraine
    B Fioretti
    Department of Biomedical Sciences, University of Padova and CNR Institute of Neuroscience, 35121 Padova, Italy
    J Physiol 589:5879-95. 2011
    ..Our findings suggest that the facilitation of peripheral mechanisms of CGRP action, such as dural vasodilatation and nociceptor sensitization at the meninges, does not contribute to the generation of headache in FHM1...
  15. pmc Heterogeneity of coenzyme Q10 deficiency: patient study and literature review
    Valentina Emmanuele
    Department of Neurology, Columbia University Medical Center, New York, New York, USA
    Arch Neurol 69:978-83. 2012
    ..with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy...
  16. ncbi Immunohistochemical characterization of calcitonin gene-related peptide in the trigeminal system of the familial hemiplegic migraine 1 knock-in mouse
    Rammya Mathew
    University of California San Francisco, San Francisco, 1701 Divisadero St, San Francisco, CA 94115, USA
    Cephalalgia 31:1368-80. 2011
    ..Elevated calcitonin gene-related peptide (CGRP) levels in acute migraine and clinical trials using CGRP receptor antagonists suggest CGRP-related mechanisms are important in migraine...
  17. ncbi Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure
    Roman Schniepp
    Department of Neurology, University of Munich, Munich, Germany
    Mov Disord 27:125-31. 2012
    ..A GAITRite system was used to analyze the gait of 40 patients with cerebellar ataxia, 22 patients with bilateral vestibular failure, and 51 healthy subjects over the entire range of the ..
  18. ncbi Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
    M Anheim
    Departement de Neurologie, Hopital Civil, Centre Hospitalier Universitaire de Strasbourg, 1, Place de l Hopital, 67000, Strasbourg, France
    Neurogenetics 11:1-12. 2010
    ..FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the other forms of ARCA has been obtained only recently, and they appear to be rarer...
  19. pmc Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1
    Velina Guergueltcheva
    Department of Neurology, Medical University, Sofia 1431, Bulgaria
    Am J Hum Genet 91:553-64. 2012
    Autosomal-recessive congenital cerebellar ataxia was identified in Roma patients originating from a small subisolate with a known strong founder effect...
  20. pmc Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
    Caroline Sevin
    Pediatric Neurology and Endocrinology, Hopital St Vincent de Paul, Paris, France
    Orphanet J Rare Dis 6:8. 2011
    To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).
  21. ncbi Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
    Alexandra Durr
    Université Pierre et Marie Curie Paris, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, Paris, France
    Lancet Neurol 9:885-94. 2010
    ..The diversity of underlying mechanisms that give rise to the dominant cerebellar ataxias need to be taken into account to identify therapeutic targets...
  22. pmc β- but not γ-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    EMBO Mol Med 4:171-9. 2012
    ..Our data and the failures of anti-Aβ therapies in humans advise against targeting γ-secretase cleavage of APP and/or Aβ...
  23. ncbi Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
    Mike Gerards
    Department of Genetics and Cell Biology, Unit Clinical Genomics Maastricht University, Maastricht, The Netherlands
    Mitochondrion 10:510-5. 2010
    ..Homozygosity mapping in a consanguineous family with three affected children with progressive cerebellar ataxia and atrophy revealed a candidate locus on chromosome 1, containing the CABC1/ADCK3 (the chaperone, ABC1 ..
  24. ncbi Mesenchymal stem cells rescue Purkinje cells and improve motor functions in a mouse model of cerebellar ataxia
    Jonathan Jones
    Neuroscience Institute, University Miguel Hernandez UMH CSIC, San Juan, Alicante, Spain
    Neurobiol Dis 40:415-23. 2010
    ..Of these, cerebellar ataxia is a group of disorders characterized by the degeneration of the cerebellum, particularly the Purkinje cells,..
  25. pmc A new Kv1.2 channelopathy underlying cerebellar ataxia
    Gang Xie
    Samuel Lunenfeld Research Institute at Mount Sinai Hospital, Canada
    J Biol Chem 285:32160-73. 2010
    ..These results suggest that independent of known mutations in Kcna1 encoding Kv1.1, Kcna2 mutations may be important molecular correlates underlying human cerebellar ataxic disease...
  26. pmc A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice
    Esther B E Becker
    Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom
    Proc Natl Acad Sci U S A 106:6706-11. 2009
    ..Here, we report a previously undescribed dominant mouse model of cerebellar ataxia, moonwalker (Mwk), that displays motor and coordination defects and loss of cerebellar Purkinje cells...
  27. ncbi Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry
    Martin Köllensperger
    Clinical Department of Neurology, Innsbruck Medical University, Austria
    Mov Disord 25:2604-12. 2010
    ..a Parkinson's Disease (PD)-like α-synucleinopathy clinically characterized by dysautonomia, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination...
  28. pmc Size of error affects cerebellar contributions to motor learning
    Sarah E Criscimagna-Hemminger
    Johns Hopkins University School of Medicine, 720 Rutland Ave, 416 Traylor Building, Baltimore, MD 21205, USA
    J Neurophysiol 103:2275-84. 2010
    ..The neural basis of motor learning in response to small and large errors appears to be distinct...
  29. ncbi Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients
    Setareh Shams'ili
    Department of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Brain 126:1409-18. 2003
    Paraneoplastic cerebellar degeneration (PCD) is a heterogeneous group of disorders characterized by subacute cerebellar ataxia, specific tumour types and (often) associated antineuronal antibodies...
  30. ncbi Pathways to motor incoordination: the inherited ataxias
    Franco Taroni
    Laboratory of Cell Pathology, IRCCS Istituto Nazionale Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
    Nat Rev Neurosci 5:641-55. 2004
  31. ncbi Cerebellar cell degeneration in the leaner mutant mouse
    K Herrup
    Neuroscience 7:2185-96. 1982
    ..It is hoped that this developmental sketch of the leaner defect will stimulate others to approach leaner and its alleles, tottering and rolling, as models for heterogeneity of disease expression...
  32. ncbi Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
    R Allikmets
    Intramural Research Support Program, SAIC Frederick and Laboratory of Genomic Diversity, National Cancer Institute, Building 560, Room 21 18, Frederick Cancer Research and Development Center, Frederick, MD 21702 1201, USA
    Hum Mol Genet 8:743-9. 1999
    ..XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis...
  33. ncbi A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse
    Adrian M Isaacs
    Medical Research Council Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom
    J Neurosci 23:1631-7. 2003
    ..This function was not identified through knock-out studies, highlighting the power of phenotype-driven mutagenesis in the mouse to identify new pathways involved in neurological disease...
  34. ncbi Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity
    C F Fletcher
    Mouse Cancer Genetics Program, National Cancer Institute FCRDC, Frederick, Maryland 21702, USA
    FASEB J 15:1288-90. 2001
  35. pmc Candidate screening of the TRPC3 gene in cerebellar ataxia
    Esther B E Becker
    MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK
    Cerebellum 10:296-9. 2011
    ..Although many genetic mutations causing inherited cerebellar ataxia have been identified, a significant percentage of patients remain whose cause is unknown...
  36. ncbi A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia
    R Zeng
    Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA
    J Vet Intern Med 25:267-72. 2011
    Bandera's neonatal ataxia (BNAt) is an autosomal recessive cerebellar ataxia that affects members of the Coton de Tulear dog breed.
  37. ncbi Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases
    Ichiro Miyai
    Morinomiya Hospital, Osaka, Japan
    Neurorehabil Neural Repair 26:515-22. 2012
    ..To investigate short- and long-term effects of intensive rehabilitation on ataxia, gait, and activities of daily living (ADLs) in patients with degenerative cerebellar disease...
  38. ncbi Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics
    Marios Hadjivassiliou
    Department of Neurology, The Royal Hallamshire Hospital, Sheffield, UK
    Brain 126:685-91. 2003
    ..HLA DQ2 was present in 72% of patients. Gluten ataxia is therefore the single most common cause of sporadic idiopathic ataxia. Antigliadin antibody testing is essential at first presentation of patients with sporadic ataxia...
  39. ncbi Diffusion-weighted magnetic resonance imaging of a severe heat stroke patient complicated with severe cerebellar ataxia
    Ryusuke Ookura
    Department of Emergency Medicine, Kobe City Medical Center West Hospital, Kobe
    Intern Med 48:1105-8. 2009
    ..She gradually became conscious, but severe cerebellar ataxia persisted.
  40. pmc Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
    Sascha Vermeer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:813-9. 2010
    ..technology, we identified a mutation in a gene and have shown its association with autosomal-recessive cerebellar ataxia. In a Dutch consanguineous family with three affected siblings a homozygous 12...
  41. ncbi A novel mutation in SACS gene in a family from southern Italy
    C Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Neurology 62:100-2. 2004
    ..The phenotype is similar to previously described patients with ARSACS...
  42. pmc Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held
    Carlota Gonzalez Inchauspe
    Instituto de Fisiologia, Biología Molecular y Neurociencias, CONICET, Departamento de Fisiologia, Biologia Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
    J Neurophysiol 108:2967-76. 2012
    ..Faster recovery in R192Q KI mice was prevented by the calcium chelator EGTA-AM, pointing to enlarged residual calcium as a key factor in accelerating the replenishment of synaptic vesicles...
  43. pmc Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia
    Brent L Fogel
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA
    Mov Disord 27:442-6. 2012
    ..Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia...
  44. ncbi Speed-dependent temporospatial gait variability and long-range correlations in cerebellar ataxia
    M Wuehr
    University of Munich, Graduate School of Systemic Neurosciences, Munich, Germany
    Gait Posture 37:214-8. 2013
    ..On the basis of studies reporting a dependency of variability magnitude and structure on the walking speed, we hypothesized that patients with cerebellar ataxia (CA) would show alterations of gait variability in a speed-dependent manner.
  45. ncbi Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
    Sophie Tezenas du Montcel
    Department of Biostatistics and Medical Informatics, and Pitié Salpêtrière Charles Foix Clinical Research Unit, Hopital Pitie Salpetriere, 47 Boulevard de l Hopital, Paris, France
    Arch Neurol 69:500-8. 2012
    ..To evaluate disease progression and determine validity of clinical tools for therapeutic trials...
  46. pmc Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis
    Ginevra Zanni
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy
    Proc Natl Acad Sci U S A 109:14514-9. 2012
    ..mutation (G1107D) in the CaM-binding domain of isoform 3 of the PMCAs in a family with X-linked congenital cerebellar ataxia. PMCA3 is highly expressed in the cerebellum, particularly in the presynaptic terminals of parallel fibers-..
  47. pmc Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series
    Michael Strupp
    Department of Neurology, University Hospital Munich and German Center for Vertigo and Balance Disorders, Campus Grosshadern, Marchioninistrasse 15, 81377, Munich, Germany
    J Neurol 260:2556-61. 2013
    No existing medication has yet been shown to convincingly improve cerebellar ataxia. Therefore, the identification of new drugs for its symptomatic treatment is desirable...
  48. ncbi Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis
    J Infante
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Acta Neurol Scand 111:391-9. 2005
    ..The genetic and clinical profile of autosomal dominant cerebellar ataxias (ADCA) displays marked geographical and ethnical variability...
  49. ncbi Autosomal recessive cerebellar ataxias: the current state of affairs
    S Vermeer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    J Med Genet 48:651-9. 2011
    ..The clinical and genetic characteristics of those forms with a known molecular genetic defect are discussed, along with the emerging insights in the underlying pathophysiological mechanisms...
  50. ncbi Development and validation of the Unified Multiple System Atrophy Rating Scale (UMSARS)
    Gregor K Wenning
    Department of Neurology, University of Innsbruck, Austria
    Mov Disord 19:1391-402. 2004
    ..Based on our findings, the UMSARS appears to be a multidimensional, reliable, and valid scale for semiquantitative clinical assessments of MSA patients...
  51. ncbi Insulin-like growth factor I treatment for cerebellar ataxia: addressing a common pathway in the pathological cascade?
    A M Fernandez
    Laboratory of Neuroendocrinology, Cajal Institute, CSIC, Avda Dr Arce 37, 28002 Madrid, Spain
    Brain Res Brain Res Rev 50:134-41. 2005
    ..present work we review evidence supporting the use of insulin-like growth factor I (IGF-I) for treatment of cerebellar ataxia, a heterogeneous group of neurodegenerative diseases of low incidence but high societal impact...
  52. ncbi Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
    Luis E Kolb
    Department of Neurosurgery, Neurobiology, Program on Neurogenetics Yale University School of Medicine, New Haven, CT, USA
    Neurogenetics 11:319-25. 2010
    ..Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and ..
  53. ncbi Sporadic cerebellar ataxia associated with gluten sensitivity
    K Burk
    Department of Neurology, University of Tubingen, Germany
    Brain 124:1013-9. 2001
    A total of 104 patients with sporadic cerebellar ataxia were tested for antigliadin and antiendomysium antibodies. Twelve individuals (11...
  54. pmc Impact of the leaner P/Q-type Ca2+ channel mutation on excitatory synaptic transmission in cerebellar Purkinje cells
    Shaolin Liu
    Department of Neurosciences, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 4975, USA
    J Physiol 586:4501-15. 2008
    Loss-of-function mutations in the gene encoding P/Q-type Ca(2+) channels cause cerebellar ataxia in mice and humans, but the underlying mechanism(s) are unknown...
  55. ncbi Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
    M Gironi
    Department of Neurology, Laboratory of Biology, University of Milan, Italy
    Neurology 62:818-20. 2004
    ..Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.
  56. pmc Walking in circles: navigation deficits from Parkinson's disease but not from cerebellar ataxia
    C Paquette
    Department of Neurology, Oregon Health and Science University, 505 NW 185 Avenue, Beaverton, Portland, OR 97006, USA
    Neuroscience 190:177-83. 2011
    ..Our goal was to examine how Parkinson's disease (PD) and cerebellar ataxia, as human lesion models of the basal ganglia and cerebellum, affect spatial navigation round a circular ..
  57. ncbi Cerebellar ataxias
    Mario Manto
    Fonds National de la Recherche Scientifique Neurologie, Laboratoire de Neurologie Expérimentale, ULB, Bruxelles, Belgium
    Curr Opin Neurol 22:419-29. 2009
    ..The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for effective therapies in neurodegenerative ataxias...
  58. pmc CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
    Julie Mollet
    INSERM U781 and Department of Genetics, Hopital Necker Enfants Malades, Universite Rene Descartes Paris V, 149 rue de Sevres, 75015 Paris, France
    Am J Hum Genet 82:623-30. 2008
    ..All the missense mutations resulted in a respiratory phenotype with no or decreased growth on glycerol medium and a severe reduction in ubiquinone synthesis, demonstrating that these mutations alter the protein function...
  59. ncbi Neonatal cerebellar ataxia in Coton de Tulear dogs
    Joan R Coates
    Department of Veterinary Small Animal Medicine and Surgery, College of Veterinary Medicine Texas A and M University, College Station, TX 77843 4474, USA
    J Vet Intern Med 16:680-9. 2002
    ..An autosomal recessive trait affecting development of the cerebellum is suspected...
  60. ncbi Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Nat Genet 37:1312-4. 2005
    ..that would disrupt the SIL1 protein in individuals with Marinesco-Sjögren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy...
  61. ncbi The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study
    Mark Wardle
    Dept of Neurology, Ophthalmology and Audiological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    J Neurol 256:343-8. 2009
    ..Furthermore, there is marked geographic and ethnic variation in the relative importance of these individual disorders and the cause of such observed variation remains unexplained...
  62. ncbi Rare forms of autosomal recessive neurodegenerative ataxia
    Michel Koenig
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, Illkirch, France
    Semin Pediatr Neurol 10:183-92. 2003
    ..The rarer recessive ataxias can be clinically classified as sensory and spinocerbellar ataxias, cerebellar ataxia with sensory-motor polyneuropathy, and purely cerebellar ataxias...
  63. pmc Hashimoto's encephalopathy presenting with progressive cerebellar ataxia
    H Nakagawa
    J Neurol Neurosurg Psychiatry 78:196-7. 2007
  64. ncbi Cerebellar ataxia and central nervous system whipple disease
    Brandy R Matthews
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Arch Neurol 62:618-20. 2005
    ..Central nervous system symptoms are eventually present in as many as 43% of the cases. To our knowledge, cerebellar ataxia in WD has never been formally studied in any large series.
  65. ncbi Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal
    J Vale
    Neurology Department, Hospital de Egas Moniz CHLO, Lisbon, Portugal
    Eur J Neurol 17:124-8. 2010
    The relative frequency of the different autosomal dominant cerebellar ataxia (ADCA) varies widely amongst different geographic locations. Here we describe a series of 45 ADCA families from Portugal.
  66. ncbi Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
    R A Ophoff
    MGC Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands
    Cell 87:543-52. 1996
    ..In EA-2, we found two mutations disrupting the reading frame. Thus, FHM and EA-2 can be considered as allelic channelopathies. A similar etiology may be involved in common types of migraine...
  67. ncbi Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3
    K Burk
    Department of Neurology, University of Tubingen, Hoppe Seyler Strasse 3, D 72076 Tubingen, Germany
    J Neurol 246:789-97. 1999
    Forty-six patients suffering from autosomal dominant cerebellar ataxia type I (ADCA I) underwent to a genotype-phenotype correlation analysis by molecular genetic assignment to the spinocerebellar ataxia type 1, 2, or 3 (SCA1, SCA2, SCA3)..
  68. ncbi Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening
    S Vermeer
    Dept of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Neurol 254:1356-8. 2007
    b>Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I)...
  69. ncbi Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation
    Amila Suraweera
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Hum Mol Genet 18:3384-96. 2009
    Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia...
  70. pmc Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    J Child Neurol 24:1310-5. 2009
    ..syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. Here, we report the first patient heterozygous for 2 novel mutations in VLDLR...
  71. pmc ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
    Clotilde Lagier-Tourenne
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, et Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France
    Am J Hum Genet 82:661-72. 2008
    ..All of the patients have childhood-onset cerebellar ataxia with slow progression, and three of six have mildly elevated lactate levels...
  72. ncbi Progression of multiple system atrophy (MSA): a prospective natural history study by the European MSA Study Group (EMSA SG)
    Felix Geser
    Clinical Department of Neurology, Innsbruck Medical University, Austria
    Mov Disord 21:179-86. 2006
    ..Our data contribute to the ongoing validation process of UMSARS, and they facilitate the planning and implementation of future neuroprotective intervention trials...
  73. pmc CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait
    Seval Turkmen
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 5:e1000487. 2009
    ....
  74. ncbi Cerebellar cortical degeneration in three English bulldogs: clinical and neuropathological findings
    G Gandini
    Department of Veterinary Clinical Sciences, University of Bologna, Via Tolara di Sopra 50, 40064 Ozzano Emilia, Bologna, Italy
    J Small Anim Pract 46:291-4. 2005
    ..presented with clinical signs indicating progressive cerebellar dysfunction: a wide-based stance, severe cerebellar ataxia characterised by marked hypermetria, spasticity, and intention tremors of the head and trunk with loss of ..
  75. ncbi Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background
    D B Campbell
    Department of Neuroscience and Anatomy, Pennsylvania State University College of Medicine, Hershey 17033, USA
    Exp Neurol 160:268-78. 1999
    ..These data suggest that the cerebellar cortex, where the mutant gene is abundantly expressed, contributes to the expression of tottering mouse dystonic episodes...
  76. ncbi Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
    S Bekri
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Blood 96:3256-64. 2000
    ..ABC7 gene was shown to be the defect in members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A)...
  77. pmc The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    D H Geschwind
    Department of Neurology, University of California, Los Angeles, School of Medicine, 90095 1769, USA
    Am J Hum Genet 60:842-50. 1997
    ....
  78. pmc Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia
    Esther B E Becker
    Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford University, Oxford, UK
    J Neurol Neurosurg Psychiatry 83:437-40. 2012
    Relatively few studies have searched for potentially pathogenic antibodies in non-paraneoplastic patients with cerebellar ataxia.
  79. ncbi Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias
    Pamela Federighi
    Department of Neurological Neurosurgical and Behavioural Science, University of Siena, Siena 53100, Italy
    Brain 134:879-91. 2011
    ..10°-18°) were studied in seven patients with spinocerebellar ataxia 2, eight patients with late-onset cerebellar ataxia and 25 healthy controls...
  80. ncbi Autosomal recessive cerebellar hypoplasia in the Hutterite population
    Hannah C Glass
    Division of Neurology, Alberta Children s Hospital, Calgary, Alberta, Canada
    Dev Med Child Neurol 47:691-5. 2005
    ..It usually manifests clinically as non-progressive cerebellar ataxia with or without mental retardation...
  81. ncbi Endogenous estrogen formation is neuroprotective in model of cerebellar ataxia
    Amanda Sierra
    Instituto Cajal, C S I C, Madrid, Spain
    Endocrine 21:43-51. 2003
    ..The neuroprotective role of estradiol in the inferior olive was then assessed in a model of cerebellar ataxia, achieved by the ip administration of 3-acetylpyridine (3-AP)...
  82. ncbi Cerebellar cortical degeneration in adult American Staffordshire Terriers
    Natasha Olby
    Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 4700 Hillsborough Street, Raleigh, NC 27606, USA
    J Vet Intern Med 18:201-8. 2004
    ..Many spinocerebellar ataxias in humans are caused by nucleotide repeats, and this genetic aberration merits investigation as a potential cause of the disease in American Staffordshire Terriers...
  83. ncbi Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family
    H Takahashi
    Department of Pathology, Brain Research Institute, Niigata University, Asahimachi, Japan
    Acta Neuropathol 95:333-7. 1998
    ..We conclude that the pathological phenotype of this newly classified autosomal dominant cerebellar ataxia, SCA6, is cerebello-olivary atrophy, or more strictly cerebellar cortical atrophy.
  84. pmc Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
    K Ishikawa
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
    Am J Hum Genet 61:336-46. 1997
    Autosomal dominant cerebellar ataxia is a group of clinically and genetically heterogeneous disorders. We carried out genomewide linkage analysis in 15 families with autosomal dominant pure cerebellar ataxia (ADPCA)...
  85. ncbi Pharmacological treatments of cerebellar ataxia
    Masafumi Ogawa
    Department of Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Cerebellum 3:107-11. 2004
    The confirmed pharmacological treatment of cerebellar ataxia is still lacking. In a recent preliminary trial, we showed that D-cycloserine, a partial NMDA allosteric agonist, may relieve the symptoms...
  86. ncbi Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A
    G Wiest
    Reed Neurological Research Center, Department of Neurology, UCLA School of Medicine, Los Angeles, California, USA
    Brain 124:2407-16. 2001
    ..of the whole body along the interaural axis, we examined the LVOR in six patients with hereditary cerebellar ataxia due to mutations of the calcium channel gene CACNA1A, five with spinocerebellar ataxia type 6 (SCA6) and one ..
  87. ncbi X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
    A Maguire
    Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, Wales, UK
    Br J Haematol 115:910-7. 2001
    ..An uncle affected by ataxia also carried this mutation. This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome...
  88. pmc Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity
    Monia B Hammer
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 92:245-51. 2013
    Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some ..
  89. ncbi Infratentorial hypointense lesion volume on T1-weighted magnetic resonance imaging correlates with disability in patients with chronic cerebellar ataxia due to multiple sclerosis
    S J Hickman
    NMR Research Unit, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    J Neurol Sci 187:35-9. 2001
    ..In MS patients selected to have chronic cerebellar ataxia, we have determined the extent of infratentorial T1 hypointense lesions and their relationship with ..
  90. ncbi ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
    Teodora Chamova
    Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria
    J Neurol 259:906-11. 2012
    ..Here, we describe additional patients from neighbouring Bulgaria, outlining invariable ANO10-ataxia features and confirming global intellectual decline as part of the phenotype resulting from complete Anactomin 10 deficit...
  91. pmc Selective loss of Purkinje cells in a patient with anti-gliadin-antibody-positive autoimmune cerebellar ataxia
    Kazunori Nanri
    Department of Neurology, Tokyo Medical University Hachioji Medical Center 1163 Tatemachi, Hachioji, Tokyo, 193 0998, Japan
    Diagn Pathol 6:14. 2011
    ..The clinical conditions of gluten ataxia have not yet been properly elucidated, but are expected to be revealed as the number of autopsied cases increases...
  92. ncbi Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family
    José Barros
    Servico de Neurologia, Hospital de Santo Antonio, Centro Hospitalar do Porto, Porto, Portugal
    JAMA Neurol 70:235-40. 2013
    To document and discuss the broad phenotypic variability in a Portuguese family with cerebellar ataxia, hemiplegic migraine, and related syndromes caused by missense mutation c.1748 (p.R583Q) in the CACNA1A gene.
  93. ncbi Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations
    Chantal Depondt
    From Hôpital Erasme C D, N S, R v H, M A, M P, Université Libre de Bruxelles C D, S D, M R, M P and Algemeen Ziekenhuis Sint Jan M D, Brugge, Belgium
    Neurology 82:1749-50. 2014
    ..Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined...
  94. ncbi The influence of knee rigidity on balance corrections: a comparison with responses of cerebellar ataxia patients
    L B Oude Nijhuis
    Division of Audiology and Neurootology, Department of ORL, University Hospital, Hebelstrasse 10, 4031, Basel, Switzerland
    Exp Brain Res 187:181-91. 2008
    ..However in the roll plane, healthy controls rapidly compensate by adjusting arm movements and hip flexion to offset the effects of knee rigidity...
  95. pmc Suppression of saccadic intrusions in hereditary ataxia by memantine
    A Serra
    Veterans Affairs Medical Center, Case Western Reserve University, Cleveland, OH, USA
    Neurology 70:810-2. 2008
  96. ncbi Antimony-induced cerebellar ataxia
    Eltahir Awad G Khalil
    Department of Clinical Pathology and Immunology Institute of Endemic Diseases, University of Khartoum, PO Box 45235, Khartoum, Sudan
    Saudi Med J 27:90-2. 2006
    ..Like other infectious diseases, neurological manifestations of VL and sodium stibogluconate have been documented. In this report, we present 2 cases of cerebellar ataxia most likely induced by Pentostam, and explain the probable cause.
  97. ncbi Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice
    Zhenyu Gao
    Department of Neuroscience, Erasmus Medical Centre, 3000 CA Rotterdam, The Netherlands
    J Neurosci 32:15533-46. 2012
    ..influx has been shown to reduce the regularity of cerebellar Purkinje cell activity and to induce episodic cerebellar ataxia. However, little is known about how ataxia can be caused by CACNA1A mutations that increase the Ca(2+) ..
  98. ncbi Recurrent acute cerebellar ataxia associated with anti-cardiolipin antibodies
    Nobutsune Ishikawa
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Minami Ku, Hiroshima 734 8551, Japan
    Brain Dev 32:588-91. 2010
    Various autoantibodies are detected in patients with acute cerebellar ataxia (ACA). Although an autoimmune process may contribute to the mechanism of ACA, its pathophysiology is not completely understood...
  99. pmc Cerebellar abnormalities on proton MR spectroscopy in gluten ataxia
    I D Wilkinson
    Academic Unit of Radiology, University of Sheffield, Sheffield, England
    J Neurol Neurosurg Psychiatry 76:1011-3. 2005
    ..These data support the hypothesis that cerebellar neuronal physiology differs between patients with gluten ataxia and healthy controls...
  100. ncbi Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis
    Stefano D'Arrigo
    Developmental Neurology Department, Istituto Neurologico C Besta, Milan, Italy
    J Child Neurol 23:895-900. 2008
    ..apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy...
  101. ncbi Low-titer anti-GAD-antibody-positive cerebellar ataxia
    Kazunori Nanri
    Department of Neurology, Tokyo Medical University Hachioji Medical Center, 1163 Tatemachi, Hachioji, Tokyo, 193 0998, Japan
    Cerebellum 12:171-5. 2013
    The majority of cases of anti-glutamic acid decarboxylase (GAD)-antibody-positive cerebellar ataxia are reported to have high levels of anti-GAD antibody, and the diagnostic value of low titers of anti-GAD antibody in a patient with ..

Research Grants62

  1. FUNCTION OF MIDBRAIN STRUCTURES IN EYE MOVEMENT CONTROL
    DAVID WAITZMAN; Fiscal Year: 2005
    ..These results also imply that examining the remembered saccades of patients with PSP may lead to earlier and more reliable diagnosis and permit better monitoring of therapeutic interventions. ..
  2. Molecular mechanisms of lung disease in ataxia telangiectasia
    JoAnn M Sekiguchi; Fiscal Year: 2013
    PROJECT SUMMARY Ataxia-telangiectasia (A-T) is a rare, autosomal recessive human disorder characterized by cerebellar ataxia, immunodeficiency, cancer predisposition, recurrent sinopulmonary infections and chronic interstitial lung ..
  3. 14th International Workshop on Ataxia-Telangiectasia and ATM
    Richard A Gatti; Fiscal Year: 2010
    ..Ataxia-telangiectasia (A-T) is a complex autosomal recessive disorder that is characterized by a progressive cerebellar ataxia, telangiectasia, immunodeficiency, genomic instability, radiation sensitivity, and a markedly increased ..
  4. Development of a Porcine Model of Ataxia-Telangiectasia
    Christopher Rogers; Fiscal Year: 2011
    ..A-T) is a multi-systemic, recessively inherited disorder characterized primarily by early onset cerebellar ataxia and telangiectasia, from which the disease name is derived...
  5. Investigating the pathogenesis of CoQ10 deficiencies
    Catarina M Quinzii; Fiscal Year: 2013
    ..In addition, in a family with four individuals with cerebellar ataxia and CoQ10 deficiency, they identified a pathogenic mutation in the APTX gene, which encodes a protein ..
  6. Development of a Porcine Model of Ataxia-Telangiectasia
    Christopher Rogers; Fiscal Year: 2013
    ..It is characterized primarily by early onset cerebellar ataxia and telangiectasia, from which the disease name is derived...
  7. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2012
    ..with four clinical phenotypes: an encephalomyopathy, infantile encephalomyopathy with renal dysfunction, cerebellar ataxia, and pure myopathy. We have identified 38 patients from 33 families with CoQ10-deficiency...
  8. The amelioration of peroxisomal disorders due to defects in Pex10
    Lee A Niswander; Fiscal Year: 2013
    ..severe disease Zellweger syndrome that is lethal within six months of birth, to the progressive diseases of cerebellar ataxia and spinal ataxia...
  9. Coordination of orofacial and respiratory movements
    Detlef H Heck; Fiscal Year: 2012
    ..that the precise temporal coordination between orofacial and respiratory movements is disrupted in mice with cerebellar ataxia. The coordination of orofacial and respiratory movements will be determined under different behavioral ..
  10. 15th International Workshop on Ataxia-Telangiectasia and ATM to be held in India
    Tej K Pandita; Fiscal Year: 2012
    ..Ataxia-telangiectasia (A-T) is a complex autosomal recessive disorder that is characterized by a progressive cerebellar ataxia, telangiectasia, immunodeficiency, genomic instability, ionizing radiation sensitivity, and a markedly ..
  11. 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 ..
  12. Characterizing Beta Lactams as Neuroprotectants for Amyotrophic Lateral Sclerosis
    Jeffrey D Rothstein; Fiscal Year: 2010
    ..function of various molecular subtypes of this transporter family is associated with brain tumor growth, cerebellar ataxia, multiple sclerosis and epilepsy...
  13. Structure-Function of the Nuclear Envelope Bridge and its Role in Laminopathies
    Thomas U Schwartz; Fiscal Year: 2012
    ..including the severe muscle disease, Emery-Dreifuss muscular dystrophy, neurological disorders such as cerebellar ataxia, and progeria the SUN-KASH interaction within the LINC complex is lost, resulting in severe consequences for ..
  14. Mechanisms of Calcium-Calmodulin Mediated Ion Channel Gating
    Richard Aldrich; Fiscal Year: 2013
    ..SK channels are important for a wide range of physiological systems, and are involved in cerebellar ataxia, epilepsy and learning and memory...
  15. Role of Nucleo-cytoskeleton Interactions in Cell Migration
    Gregg G Gundersen; Fiscal Year: 2013
    ..positioning pathways cause a number of human diseases, including muscular dystrophies, cardiomyopathies, cerebellar ataxia and lissencephaly, these studies will also provide new avenues for understanding human disease and ..
  16. Impact of stress on GluR2 transcription and learning-induced synaptic plasticity
    Siqiong June Liu; Fiscal Year: 2013
    ..Stress can trigger cerebellar ataxia in susceptible individuals and also enhances associative learning...
  17. Rare and Novel Genetic Variation in the Pathogenesis of Cerebellar Ataxia
    BRENT LINDEN FOGEL; Fiscal Year: 2013
    ..this genetic variation with a large bank of DNA samples from hundreds of individuals and families with cerebellar ataxia, all with precisely detailed clinical information...
  18. Structures and functions of the human Josephin domain-containing proteins
    Patrick J Loll; Fiscal Year: 2012
    ..is ataxin-3, a polyglutamine protein and the causative agent of the most common inherited ataxia, spinal cerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease)...
  19. RNA-Gain-of-Function Pathogenesis in SCA10
    Tetsuo Ashizawa; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia, is caused by a large expansion mutation of intronic ATTCT pentanucleotide repeat in the ATXN10 gene...
  20. Identification of the gene causing spinocerebellar ataxia in a Filipino family
    MICHAEL FARRIS WATERS; Fiscal Year: 2012
    ..We have identified a large Filipino pedigree segregating a dominant trait for cerebellar ataxia with a causative mutation in the voltage-gated potassium channel KCNC3...
  21. Automatic Cerebellar MRI Labeling in Health and Disease
    Jerry L Prince; Fiscal Year: 2013
    ..cerebellum, as can more specific diseases of the cerebellum such as olivopontine cerebellar degeneration and cerebellar ataxia. Through the study of cerebellar ataxia, which involves pronounced atrophy in distinct patterns associated ..
  22. Molecular bases of BK channel function and localization
    Zhao Wen Wang; Fiscal Year: 2013
    ..Dysfunction of the channel causes a variety of diseases, including epilepsy, progressive hearing loss, cerebellar ataxia, and hypertension...
  23. Next Generation gene discovery in neurogenetics
    Wendy H Raskind; Fiscal Year: 2013
    ..These conditions include Alzheimer's disease, Parkinson's disease, cerebellar ataxia, muscle disease, and peripheral neuropathy, diseases that frequently afflict our aging population...
  24. Cerebellar GABAA receptor contributions to EtOH intoxication and EtOH intake
    JOSHUA STEVEN KAPLAN; Fiscal Year: 2013
    ..of tonic GABAAR inhibition of GCs differed across rodents with divergent sensitivities to alcohol-induced cerebellar ataxia and alcohol consumption phenotypes...
  25. Identifying symptomatic and neuroprotective strategies for cerebellar ataxia
    VIKRAM GOVINDARAJU SHAKKOTTAI; Fiscal Year: 2013
    ..abstract_text> ..
  26. The role of Nemo-like kinase in neurodegeneration
    Janghoo Lim; Fiscal Year: 2012
    ..genetic cause of the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1;a dominantly inherited cerebellar ataxia causing cerebellar Purkinje neuron degeneration) is known, and studies to identify the underlying ..
  27. Cerebellar function and rehabilitative strategies
    NASIR HUSAIN BHANPURI; Fiscal Year: 2012
    ..It is particularly important because there are currently no proven treatments for cerebellar ataxia.
  28. Transcranial Stimulation in Spino-Cerebellar Ataxia
    Alvaro Pascual-Leone; Fiscal Year: 2013
    ....
  29. MECHANISMS AND REHABILITATION OF CEREBELLAR ATAXIA
    Amy J Bastian; Fiscal Year: 2013
    ..Our overarching goal is to provide a scientific foundation for devising new rehabilitation strategies. ..
  30. 12th International Workshop on Ataxia-Telangiectasia and ATM
    Richard Gatti; Fiscal Year: 2006
    ..A-T is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency, chromosomal instability, radiation sensitivity and increased incidence of ..
  31. Models and Devices for Coordination Rehabilitation
    Allison Okamura; Fiscal Year: 2009
    ....
  32. Ocular motor control and MRI in hereditary ataxia
    Sarah Ying; Fiscal Year: 2009
    ..David Zee, who has expertise in clinical, ocular motor, and control-systems characterization of cerebellar ataxia syndromes as well as experience in structural and functional MR imaging of the ocular motor system. Dr...
  33. FUNCTION OF THE ATAXIA TELANGIECTASIA GENE PRODUCT
    Lewis Cantley; Fiscal Year: 2002
    ..A-T) is an autosomal recessive, pleiotrophic human disorder characterized by progressive neurodegenerative cerebellar ataxia, radiosensitivity, immunodeficiencies, telangiectases of eyes and skin, a greatly enhanced predisposition ..
  34. A research and clinical tool for connectivity-based analysis of brainstem anatomy
    Sarah Ying; Fiscal Year: 2009
    ..RELEVANCE: Project narrative Neurodegenerative diseases, such as Alzheimer's, Parkinson's, and cerebellar ataxia, have a devastating impact on many lives...
  35. COMPLEMENTATION OF THE NIJMEGEN BREAKAGE SYNDROME DEFECT
    CORDULA KIRCHGESSNER; Fiscal Year: 1999
    ..Patients affected by NBS do not display cerebellar ataxia or telangiectasia, two prominent symptoms in Ataxia telangiectasia patients...
  36. SK Channel Openers as Therapeutics for Cerebellar Ataxia
    Heike Wulff; Fiscal Year: 2007
    b>Cerebellar ataxia is a lethal neurological disease, which afflicts about 150,000 people in the US. There are currently no known preventive, neuroprotective or symptomatic treatments for this devastating disease...
  37. MITOCHONDRIAL PROTEIN SYNTHESIS AND HERITABLE DISEASE
    CAROL IRWIN; Fiscal Year: 1980
    ..g., Leigh's disease, congenital lactic acidosis, and cerebellar ataxia; and cerebro-hepato-renal syndrome...
  38. ANALYSIS AND TREATMENT OF CEREBELLAR ATAXIA
    Amy Bastian; Fiscal Year: 2001
    ....
  39. CHARACTERIZATION OF HEREDITARY CEREBELLAR ATAXIA
    DANIEL TOLBERT; Fiscal Year: 1991
    ..Purkinje cell degeneration in humans has been associated with hereditary cerebellar ataxia, alcohol intoxication, certain neoplasias, and aging...
  40. Investigating mechanisms of skeletal muscle degeneration in Myotonic Dystrophy
    James P Orengo; Fiscal Year: 2010
    ..Information gained from this project may also provide insight into other tri-nucleotide expansion repeat disorders, such as Huntington's Chorea, Friedreich's Ataxia, Spinal Cerebellar Ataxia and Fragile X syndrome.
  41. The role of Nemo-like kinase in neurodegeneration
    Janghoo Lim; Fiscal Year: 2010
    ..genetic cause of the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1;a dominantly inherited cerebellar ataxia causing cerebellar Purkinje neuron degeneration) is known, and studies to identify the underlying ..
  42. IGF-I Therapy for Hereditary Cerebeullar Ataxia
    Wei Hua Lee; Fiscal Year: 2003
    ..from dying in cerebeltar mutant mice, thereby evaluating the therapeutic potential of IGF-l in treating cerebellar ataxia in humans...
  43. 2001 CAG Triplet Repeat Disorders
    Patrick Brundin; Fiscal Year: 2001
    ..This latter group includes Huntington's disease, spino-cerebellar ataxia 1, 2, 3, 6 and 7, spinobulbar muscular atrophy and dentato-rubral pallido-luysian atrophy...
  44. INTERACTIONS OF CALCIUM CHANNELS WITH ADAPTOR PROTEINS
    Ilya Bezprozvanny; Fiscal Year: 2003
    ..the position of polyglutamine repeat expansion in a1A sequence, which has been linked to autosomal dominant cerebellar ataxia (SCA6) disorder in humans...
  45. Role of multiple plasticity mechanisms in motor learning
    Edward Boyden; Fiscal Year: 2004
    ..not only play a crucial role in normal motor function, but may be deficient in movement disorders such as cerebellar ataxia. To understand these plasticity mechanisms, we are studying their necessity in a simple paradigm, motor ..
  46. Robotic Assistance for Rehabilitation of Coordination Deficits
    DAVID ISAAC GROW; Fiscal Year: 2010
    ..The approach could eventually be extended to a broad range of patient populations, affecting the quality of life of millions of people with neurological disorders. ..
  47. MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIA
    Joanna Jen; Fiscal Year: 2002
    ..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..
  48. Conference on the Diagnosis of Multiple System Atrophy
    Sid Gilman; Fiscal Year: 2006
    ..This conference will assist with early diagnosis by developing new guidelines for diagnosis using newly available imaging and neuropathological criteria. [unreadable] [unreadable] [unreadable]..
  49. Cognitive Effects of Cerebellar Lesions in Humans
    JEREMY SCHMAHMANN; Fiscal Year: 2006
    ..This study has implications for the recognition and treatment of disorders of higher order function in cerebellar patients. [unreadable] [unreadable]..
  50. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2009
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  51. International Conference on Episodic Ataxia Syndromes
    Joanna Jen; Fiscal Year: 2005
    ..abstract_text> ..
  52. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna C Jen; Fiscal Year: 2010
    ..abstract_text> ..
  53. Genetics of Familial Episodic Ataxia
    Joanna C Jen; Fiscal Year: 2010
    ..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..
  54. Parkin mutations and their functional consequences
    Alexis Brice; Fiscal Year: 2005
    ....
  55. Voltage-gated sodium channel beta subunits in zebrafish
    LORI ISOM; Fiscal Year: 2006
    ..abstract_text> ..
  56. MOLECULAR GENETIC CHARACTERIZATION OF SCA7
    Harry Orr; Fiscal Year: 2002
    ..To gain insight into ataxin-7 function a series of experiments are proposed to characterize the cellular and subcellular expression of ataxin-7 and to identify proteins that interact with ataxin-7 using the yeast two-hybrid system. ..
  57. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2003
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthria and nystagmus...
  58. Sodium Channel Beta Subunit Cell Adhesive Interactions
    Lori L Isom; Fiscal Year: 2010
    ....
  59. Diseases of the Vestibular System
    Robert Baloh; Fiscal Year: 2006
    ..abstract_text> ..
  60. DIZZINESS IN OLDER PEOPLE
    Robert Baloh; Fiscal Year: 2006
    ..By continuing this longitudinal study of carefully studied older patients and controls, our multidisciplinary research team is in a good position to achieve our goals. ..
  61. Transgenic Models of Huntington's Disease
    Christopher Ross; Fiscal Year: 2006
    ..The new mouse model will be useful for studying pathogenic features of HD, and for testing experimental therapeutic interventions. ..
  62. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2009
    ..Thus, knowledge of the mechanisms leading to the inclusions in FXTAS, as a single-gene disorder, should lead to a broader understanding of the events leading to inclusion formation in other neurodegenerative disorders. ..