About Dystonia:

Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, which force certain parts of the body into abnormal, sometimes painful, movements or postures. Dystonia can affect any part of the body including the arms and legs, trunk, neck, eyelids, face, or vocal cords.

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 New Discoveries:

DYT6 Gene Identified in Both Generalized and Focal Dystonias (AAN 2009)

E-MOVE reports from the 61st Annual Meeting of the American Academy of Neurology, held in Seattle, WA, April 25th ­ May 2nd, 2009. Poster and Session numbers refer to their listing in Neurology, 2009;72(suppl3)

Two new studies highlight the importance of mutations in the THAP1 gene for both generalized and focal primary dystonia.

Bressman et al. sequenced the DYT6 region, a centromeric region on chromosome 8 in linked with early-onset focal and generalized dystonia in Amish-Mennonite families. They discovered a mutation in THAP1, a transcription factor. They then screened phenotypically similar non-Amish-Mennonite families of European ancestry, and discovered 8 additional mutations. The mutations are predicted to affect DNA binding.

³THAP1 mutations underlie a substantial proportion of early-onset primary torsion dystonia in families,² they conclude. ³Characteristic clinical features include involvement of both limb and cranial muscles, and speech is often affected. Mutations appear to impair DNA binding, suggesting transcriptional regulation may contribute to the phenotype of DYT6 dystonia.²

Ledoux et al. sought THAP1 mutations in 1074 subjects with primary dystonia

(916 focal, 123 segmental, 17 multifocal, and 18 generalized), as well as 96 subjects with unclassified dystonia, 200 subjects with Parkinson¹s disease, and 400 neurologically normal individuals. Mutations were identified in 13 subjects with primary dystonia and 1 control. Mutations were found in individuals with cervical dystonia, laryngeal dystonia, blepharospasm, limb dystonia, and segmental dystonia. In addition to coding mutations, a variant in intron 1 was discovered in six dystonia subjects but only 1 control, suggesting the possibility of involvement of this variant as well.

Mutations in the THAP1 gene are responsible for early onset primary torsion dystonia S Bressman, R Saunders-Pullman, T Fuchs, S Gavarini, D Raymond, L Ozelius Late Breaking Session 004

Novel THAP1 mutations in primary dystonia M Ledoux, J Xiao, RF Pfeiffer, Y Zhao, R Bastian, JS Perlmutter, et al.

Late Breaking Poster 001