Milestones in dystonia

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. In this review we highlight some of these advances, especially the gene...

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Published inMovement disorders Vol. 26; no. 6; pp. 1106 - 1126
Main Authors Ozelius, Laurie J., Lubarr, Naomi, Bressman, Susan B.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.05.2011
Wiley
Subjects
Biological and medical sciences
Carrier Proteins - genetics
Diagnostic Imaging - methods
Diseases of striated muscles. Neuromuscular diseases
dystonia
Dystonia - diagnosis
Dystonia - genetics
Dystonia - history
Dystonia - therapy
genetics
History, 19th Century
History, 20th Century
History, 21st Century
Humans
imaging
Medical sciences
Neurology
Neurophysiology
treatments
Nervous system diseases
imaging
treatments
Involuntary movement
Cerebral disorder
Neurophysiology
Striated muscle disease
Treatment
genetics
Central nervous system disease
Dystonia
Neurological disorder
Extrapyramidal syndrome
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Summary: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. In this review we highlight some of these advances, especially the genetic findings that have taken us from phenomenological to molecular‐based diagnoses. Twenty DYT loci have been designated and 10 genes identified, all based on linkage analyses in families. Hand in hand with these genetic findings, neurophysiological and imaging techniques have been employed that have helped illuminate the similarities and differences among the various etiological dystonia subtypes. This knowledge is just beginning to yield new approaches to treatment including those based on DYT1 animal models. Despite the lag in identifying genetically based therapies, effective treatments, including impressive benefits from deep brain stimulation and botulinum toxin chemodenervation, have marked the last 25 years. The challenge ahead includes continued advancement into understanding dystonia's many underlying causes and associated pathology and using this knowledge to advance treatment including preventing genetic disease expression. © 2011 Movement Disorder Society
Bibliography:Funding agencies: This work was supported by National Institute of Neurological Disorders and Stroke research grant P50NS037409 (to L.J.O.) and the Bachmann Strauss Dystonia and Parkinson Foundation (to L.J.O. and S.B.B.). Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles may be found in the online version of this article.
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ArticleID:MDS23775
Full financial disclosures and author roles may be found in the online version of this article.
Nothing to report.
Relevant conflicts of interest/financial disclosures
Funding agencies
This work was supported by National Institute of Neurological Disorders and Stroke research grant P50NS037409 (to L.J.O.) and the Bachmann Strauss Dystonia and Parkinson Foundation (to L.J.O. and S.B.B.).
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-1
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.23775