dystonia

Summary

Summary: An 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. Monbaliu E, Ortibus E, De Cat J, Dan B, Heyrman L, Prinzie P, et al. The Dyskinesia Impairment Scale: a new instrument to measure dystonia and choreoathetosis in dyskinetic cerebral palsy. Dev Med Child Neurol. 2012;54:278-83 pubmed
    The aim of this study was to examine the reliability and validity of the Dyskinesia Impairment Scale (DIS). The DIS consists of two subscales: dystonia and choreoathetosis. It measures both phenomena in dyskinetic cerebral palsy (CP).
  2. Schrader C, Capelle H, Kinfe T, Blahak C, Bazner H, Lütjens G, et al. GPi-DBS may induce a hypokinetic gait disorder with freezing of gait in patients with dystonia. Neurology. 2011;77:483-8 pubmed publisher
    ..only recently as adverse effects of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with dystonia. The aim of this work was to determine the frequency and the nature of this GPi-DBS-induced phenomenon.
  3. Meunier S, Russmann H, Shamim E, Lamy J, Hallett M. Plasticity of cortical inhibition in dystonia is impaired after motor learning and paired-associative stimulation. Eur J Neurosci. 2012;35:975-86 pubmed publisher
    ..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 ..
  4. Song C, Fan X, Exeter C, Hess E, Jinnah H. Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia. Neurobiol Dis. 2012;48:66-78 pubmed publisher
    ..The most common of the inherited dystonias is DYT1 dystonia, which is due to deletion of a single GAG codon (?E) in the TOR1A gene that encodes torsinA...
  5. Hogarth P, Gregory A, Kruer M, Sanford L, Wagoner W, Natowicz M, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013;80:268-75 pubmed publisher
    ..To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype...
  6. Engel L, Jing Z, O Brien D, Sun M, Kotzbauer P. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS ONE. 2010;5:e12897 pubmed publisher
    ..classified as infantile neuroaxonal dystrophy (INAD), neurodegeneration with brain iron accumulation (NBIA), and dystonia-parkinsonism. These clinical syndromes display two significantly different disease phenotypes...
  7. Weinberger M, Hutchison W, Alavi M, Hodaie M, Lozano A, Moro E, et al. Oscillatory activity in the globus pallidus internus: comparison between Parkinson's disease and dystonia. Clin Neurophysiol. 2012;123:358-68 pubmed publisher
    ..the globus pallidus internus (GPi) is used to alleviate the motor symptoms of both Parkinson's disease (PD) and dystonia. We tested the hypothesis that PD and dystonia are characterized by different temporal patterns of synchronized ..
  8. Albanese A, Lalli S. Update on dystonia. Curr Opin Neurol. 2012;25:483-90 pubmed publisher
    This review considers the recent literature pertaining to the clinical features, genetics, neuropathology and treatment of dystonia syndromes.
  9. Wortmann S, Vaz F, Gardeitchik T, Vissers L, Renkema G, Schuurs Hoeijmakers J, et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012;44:797-802 pubmed publisher
    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...

Scientific Experts

More Information

Publications62

  1. Stamelou M, Tuschl K, Chong W, Burroughs A, Mills P, Bhatia K, et al. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord. 2012;27:1317-22 pubmed publisher
    The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified...
  2. Theuns J, Crosiers D, Debaene L, Nuytemans K, Meeus B, Sleegers K, et al. Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia. Mov Disord. 2012;27:1451-6 pubmed publisher
    Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1.
  3. Martino D, Gajos A, Gallo V, Cif L, Coubes P, Tinazzi M, et al. Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study. J Neurol. 2013;260:1081-6 pubmed publisher
    Factors modifying the clinical penetrance of DYT1 dystonia are incompletely defined. Particularly, the contribution of extragenetic factors has been subject to only limited investigation and remains largely unexplored...
  4. Ulug A, Vo A, Argyelan M, Tanabe L, Schiffer W, DEWEY S, et al. Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice. Proc Natl Acad Sci U S A. 2011;108:6638-43 pubmed publisher
    ..One example is DYT1 dystonia, a dominantly inherited movement disorder characterized by sustained muscle contractions, postures, and/or ..
  5. Zoons E, Booij J, Nederveen A, Dijk J, Tijssen M. Structural, functional and molecular imaging of the brain in primary focal dystonia--a review. Neuroimage. 2011;56:1011-20 pubmed publisher
    ..Over the last decade neuroimaging techniques have been applied in patients with focal dystonia. Using structural, functional and molecular imaging techniques, abnormalities have been detected mainly in the ..
  6. Charlesworth G, Bhatia K, Wood N. The genetics of dystonia: new twists in an old tale. Brain. 2013;136:2017-37 pubmed publisher
    b>Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of the disease are important to recognize clinically and also provide valuable information about possible pathogenic mechanisms within the wider disorder...
  7. Andrews C, Aviles Olmos I, Hariz M, Foltynie T. Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes. J Neurol Neurosurg Psychiatry. 2010;81:1383-9 pubmed publisher
    There is substantial variability in the responsiveness of dystonia patients to deep brain stimulation (DBS), presumably due to the multiple causes of dystonia...
  8. Iwabuchi S, Kakazu Y, Koh J, Harata N. Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model. Neurosci Lett. 2013;548:61-6 pubmed publisher
    ..of cytoplasmic calcium and the excitatory neurotransmitter glutamate have been independently implicated in dystonia pathophysiology. However, cellular-level evidence linking these two features is not available...
  9. Frucht S. The definition of dystonia: current concepts and controversies. Mov Disord. 2013;28:884-8 pubmed publisher
    The definition of dystonia has been a subject of much debate and controversy for the last century. In this paper, a practical definition of dystonia for the movement disorders expert is presented, based on a new algorithm...
  10. Stamelou M, Alonso Canovas A, Bhatia K. Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. Mov Disord. 2012;27:696-702 pubmed publisher
    b>Dystonia is considered one of the classical features of corticobasal degeneration and is reported in up to 83% in clinical, not pathologically confirmed, series...
  11. Oleas J, Yokoi F, DeAndrade M, Pisani A, Li Y. Engineering animal models of dystonia. Mov Disord. 2013;28:990-1000 pubmed publisher
    b>Dystonia is a neurological disorder characterized by abnormal involuntary movements that are prolonged and often cause twisting and turning...
  12. Hutchinson M, Kimmich O, Molloy A, Whelan R, Molloy F, Lynch T, et al. The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia. Mov Disord. 2013;28:1766-74 pubmed publisher
    The pathogenesis and the genetic basis of adult-onset primary torsion dystonia remain poorly understood...
  13. Lerner R, Niethammer M, Eidelberg D. Understanding the anatomy of dystonia: determinants of penetrance and phenotype. Curr Neurol Neurosci Rep. 2013;13:401 pubmed publisher
    ..Primary dystonia has been associated with over 14 different genotypes, most of which follow an autosomal dominant inheritance ..
  14. Brücke C, Huebl J, Schönecker T, Neumann W, Yarrow K, Kupsch A, et al. Scaling of movement is related to pallidal ? oscillations in patients with dystonia. J Neurosci. 2012;32:1008-19 pubmed publisher
    ..internus in patients undergoing deep brain stimulation for medically intractable primary focal and segmental dystonia might code specific motor parameters...
  15. Ledoux M. Dystonia: phenomenology. Parkinsonism Relat Disord. 2012;18 Suppl 1:S162-4 pubmed publisher
    In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and ..
  16. Mugge W, Munts A, Schouten A, van der Helm F. Modeling movement disorders--CRPS-related dystonia explained by abnormal proprioceptive reflexes. J Biomech. 2012;45:90-8 pubmed publisher
    ..model of the wrist incorporating muscle dynamics and neural control was developed to test hypotheses on fixed dystonia. Dystonia entails sustained muscle contractions resulting in abnormal postures...
  17. Ruiz M, Strübing F, Jabusch H, Altenmüller E. EEG oscillatory patterns are associated with error prediction during music performance and are altered in musician's dystonia. Neuroimage. 2011;55:1791-803 pubmed publisher
    ..populations? (iv) Finally, are error detection and control mechanisms defective in pianists with musician's dystonia (MD), a focal task-specific dystonia resulting from dysfunction of the basal ganglia-thalamic-frontal circuits? ..
  18. Marinelli L, Pelosin E, Trompetto C, Avanzino L, Ghilardi M, Abbruzzese G, et al. In idiopathic cervical dystonia movement direction is inaccurate when reaching in unusual workspaces. Parkinsonism Relat Disord. 2011;17:470-2 pubmed publisher
    ..Motor programming has been found to be impaired in dystonia. To understand how patients affected by idiopathic cervical dystonia (CD) perform reaching movements in an ..
  19. Yianni J, Green A, Aziz T. Surgical treatment of dystonia. Int Rev Neurobiol. 2011;98:573-89 pubmed publisher
    b>Dystonia is a neurological condition characterised by abnormal muscle contractions, often causing repetitive twisting movements or abnormal postures...
  20. Carbon M, Argyelan M, Ghilardi M, Mattis P, Dhawan V, Bressman S, et al. Impaired sequence learning in dystonia mutation carriers: a genotypic effect. Brain. 2011;134:1416-27 pubmed publisher
    Abnormalities in motor sequence learning have been observed in non-manifesting carriers of the DYT1 dystonia mutation...
  21. Ruge D, Tisch S, Hariz M, Zrinzo L, Bhatia K, Quinn N, et al. Deep brain stimulation effects in dystonia: time course of electrophysiological changes in early treatment. Mov Disord. 2011;26:1913-21 pubmed publisher
    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...
  22. Munts A, Mugge W, Meurs T, Schouten A, Marinus J, Moseley G, et al. Fixed dystonia in complex regional pain syndrome: a descriptive and computational modeling approach. BMC Neurol. 2011;11:53 pubmed publisher
    ..Approximately 25% of cases develop fixed dystonia. Involvement of dysfunctional GABAergic interneurons has been suggested, however the mechanisms that underpin ..
  23. Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, et al. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012;27:1290-4 pubmed publisher
    ..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...
  24. Ledoux M. Animal models of dystonia: Lessons from a mutant rat. Neurobiol Dis. 2011;42:152-61 pubmed publisher
    b>Dystonia is a motor sign characterized by involuntary muscle contractions which produce abnormal postures. Genetic factors contribute significantly to primary dystonia...
  25. Charlesworth G, Plagnol V, Holmström K, Bras J, Sheerin U, Preza E, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012;91:1041-50 pubmed publisher
    ..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 ..
  26. Sciamanna G, Tassone A, Mandolesi G, Puglisi F, Ponterio G, Martella G, et al. Cholinergic dysfunction alters synaptic integration between thalamostriatal and corticostriatal inputs in DYT1 dystonia. J Neurosci. 2012;32:11991-2004 pubmed publisher
    ..In mice with the DYT1 dystonia mutation, stimulation of thalamostriatal axons, mimicking a response to salient events, evoked a shortened pause ..
  27. Mills K, Scherzer R, Starr P, Ostrem J. Weight change after globus pallidus internus or subthalamic nucleus deep brain stimulation in Parkinson's disease and dystonia. Stereotact Funct Neurosurg. 2012;90:386-93 pubmed publisher
    ..Weight gain has been described in Parkinson's disease (PD) patients after subthalamic nucleus (STN) deep brain stimulation (DBS)...
  28. Kreil A, Hamann M, Sander S, Richter A. Changes in dynorphin immunoreactivity but unaltered density of enkephalin immunoreactive neurons in basal ganglia nuclei of genetically dystonic hamsters. Synapse. 2011;65:1196-203 pubmed publisher
    b>Dystonia is regarded as a basal ganglia disorder...
  29. Marras C, Lohmann K, Lang A, Klein C. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology. 2012;78:1016-24 pubmed publisher
  30. Sciamanna G, Tassone A, Martella G, Mandolesi G, Puglisi F, Cuomo D, et al. Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia. PLoS ONE. 2011;6:e24261 pubmed publisher
    DYT1 dystonia, a severe form of genetically determined human dystonia, exhibits reduced penetrance among carriers and begins usually during adolescence. The reasons for such age dependence and variability remain unclear.
  31. Sadnicka A, Hoffland B, Bhatia K, van de Warrenburg B, Edwards M. The cerebellum in dystonia - help or hindrance?. Clin Neurophysiol. 2012;123:65-70 pubmed publisher
    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...
  32. Lee H, Huang Y, Bruneau N, Roll P, Roberson E, Hermann M, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012;1:2-12 pubmed publisher
  33. Ling H, Polke J, Sweeney M, Haworth A, Sandford C, Heales S, et al. An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family. Mov Disord. 2011;26:905-9 pubmed publisher
    Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene.
  34. Bøttger P, Doğanlı C, Lykke Hartmann K. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans. Neurosci Biobehav Rev. 2012;36:855-71 pubmed publisher
    ..inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium-potassium ..
  35. Tanabe L, Martin C, Dauer W. Genetic background modulates the phenotype of a mouse model of DYT1 dystonia. PLoS ONE. 2012;7:e32245 pubmed publisher
    DYT1 dystonia is a debilitating neurological disease characterized by involuntary twisting movements. The disease is caused by an in-frame deletion (GAG, "?E") mutation in the TOR1A gene that encodes the torsinA protein...
  36. Schmidt F, Costa F, Silva F, Maultasch H, Rosso A, Nicaretta D, et al. Paroxysmal dystonia and neuromyelitis optica. Arq Neuropsiquiatr. 2012;70:271-2 pubmed
    ..Our objective was to describe four patients with paroxysmal dystonia secondary to spinal lesions during the recovering phase of a neuromyelitis optica (NMO) bout...
  37. Segawa M. Dopa-responsive dystonia. Handb Clin Neurol. 2011;100:539-57 pubmed publisher
    Clinical characteristics and pahophysiologies of dopa-responsive dystonia are discussed by reviewing autosomal-dominant GTP cyclohydrolase-I deficiency (AD GCHI D), recessive deficiencies of enzymes of pteridine metabolism, and recessive ..
  38. Defazio G, Gigante A, Abbruzzese G, Bentivoglio A, Colosimo C, Esposito M, et al. Tremor in primary adult-onset dystonia: prevalence and associated clinical features. J Neurol Neurosurg Psychiatry. 2013;84:404-8 pubmed publisher
    To investigate the frequency and the main clinical features of tremor in primary adult-onset dystonia (PAOD).
  39. Evatt M, Freeman A, Factor S. Adult-onset dystonia. Handb Clin Neurol. 2011;100:481-511 pubmed publisher
    b>Dystonia is defined as involuntary sustained muscle contractions producing twisting or squeezing movements and abnormal postures...
  40. Fan X, Hughes K, Jinnah H, Hess E. Selective and sustained ?-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor activation in cerebellum induces dystonia in mice. J Pharmacol Exp Ther. 2012;340:733-41 pubmed publisher
    b>Dystonia is a neurological disorder characterized by involuntary muscle contractions that cause twisting movements and abnormal postures...
  41. Blahak C, Capelle H, Baezner H, Kinfe T, Hennerici M, Krauss J. Battery lifetime in pallidal deep brain stimulation for dystonia. Eur J Neurol. 2011;18:872-5 pubmed publisher
    ..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.
  42. Quartarone A, Pisani A. Abnormal plasticity in dystonia: Disruption of synaptic homeostasis. Neurobiol Dis. 2011;42:162-70 pubmed publisher
    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...
  43. Albanese A, Bhatia K, Bressman S, Delong M, Fahn S, Fung V, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863-73 pubmed publisher
    ..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 ..
  44. Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, et al. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet. 2012;20:171-5 pubmed publisher
    Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1...
  45. Ruge D, Cif L, Limousin P, Gonzalez V, Vasques X, Hariz M, et al. Shaping reversibility? Long-term deep brain stimulation in dystonia: the relationship between effects on electrophysiology and clinical symptoms. Brain. 2011;134:2106-15 pubmed publisher
    Long-term results show that benefits from chronic deep brain stimulation in dystonia are maintained for many years...
  46. Ramirez Castaneda J, Jankovic J. Long-term efficacy and safety of botulinum toxin injections in dystonia. Toxins (Basel). 2013;5:249-66 pubmed publisher
    ..data clearly support the conclusion that BoNT not only provides safe and effective symptomatic relief of dystonia but also long-term benefit and possibly even favorably modifying the natural history of this disease...
  47. Saunders Pullman R, Raymond D, Stoessl A, Hobson D, Nakamura K, Nakamura T, et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology. 2012;78:649-57 pubmed publisher
    To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research.
  48. Neychev V, Gross R, Lehericy S, Hess E, Jinnah H. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011;42:185-201 pubmed publisher
    b>Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. There are many different clinical manifestations, and many different causes...
  49. Dale R, Gardiner A, Antony J, Houlden H. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol. 2012;54:958-60 pubmed publisher
    ..649dupC mutation. We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. We propose that PRRT2 is a new gene for hemiplegic migraine...
  50. Albanese A, Sorbo F, Comella C, Jinnah H, Mink J, Post B, et al. Dystonia rating scales: critique and recommendations. Mov Disord. 2013;28:874-83 pubmed publisher
    Many rating scales have been applied to the evaluation of dystonia, but only few have been assessed for clinimetric properties...
  51. Phukan J, Albanese A, Gasser T, Warner T. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol. 2011;10:1074-85 pubmed publisher
    ..b>Dystonia syndromes represent common movement disorders and yet are often misdiagnosed or unrecognised...
  52. Jankovic J. Medical treatment of dystonia. Mov Disord. 2013;28:1001-12 pubmed publisher
    ..modulators, baclofen, muscle relaxants, and other pharmacologic agents have been used for a long time to treat dystonia, but the introduction of botulinum toxin and deep brain stimulation clearly revolutionized the symptomatic ..
  53. Ozelius L, Lubarr N, Bressman S. Milestones in dystonia. Mov Disord. 2011;26:1106-26 pubmed publisher
    The last 25 years have seen remarkable advances in our understanding of the genetic etiologies of dystonia, new approaches into dissecting underlying pathophysiology, and independent progress in identifying effective treatments...