Journal
MOVEMENT DISORDERS
Volume 25, Issue 13, Pages 2183-2187Publisher
WILEY-LISS
DOI: 10.1002/mds.23225
Keywords
focal dystonia; segmental dystonia; torsinA; single nucleotide polymorphisms
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Funding
- National Institute of Neurological Disorders and Stroke [P01NS037409]
- Allergan, Inc.
- Bachman Strauss Dystonia and Parkinson Foundation
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Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort. (C) 2010 Movement Disorder Society
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