Review
doi: 10.1002/mds.25528.
Primary dystonia: moribund or viable
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- PMID: 23893447
- PMCID: PMC3973177
- DOI: 10.1002/mds.25528
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Review
Primary dystonia: moribund or viable
Mov Disord.
.
Abstract
With increasing understanding of dystonia genetic etiologies and pathophysiology there has been renewed scrutiny and reappraisal of dystonia classification schemes and nomenclature. One important category that includes both clinical and etiologic criteria is primary dystonia. This editorialized review discusses the impact of recent findings on primary dystonia criteria and argues that it remains useful in clinical and research practice. © 2013 Movement Disorder Society.
Keywords: DYT1; GNAL; THAP1; classification; dystonia.
© 2013 Movement Disorder Society.
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References
-
- Augood SJ, Hollingsworth Z, Albers DS, Yang L, Leung JC, Muller B, Klein C, Breakfield XO, Standaert DG. Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study. Neurology. 2002;59(3):445–448. - PubMed
-
- Avanzino L, Martino D, Marchese R, Aniello MS, Minafra B, Superbo M, Defazio G, Abbruzzese G. Quality of sleep in primary focal dystonia: a case-control study. European Journal of Neurology. 2010;17(4):576–581. - PubMed
-
- Barahona-Correa B, Bugalho P, Guimaraes J, Xavier M. Obsessive-compulsive symptoms in primary focal dystonia: a controlled study. Movement Disorders. 2011;26(12):2274–2278. - PubMed
-
- Bara-Jimenez W, Catalan MJ, Hallett M, Gerloff C. Abnormal somatosensory homunculus in dystonia of the hand. Annals of Neurology. 1998;44(5):828–831. - PubMed
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