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Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

✍ Scribed by Nutan Sharma; Ramon A. Franco Jr.; John K. Kuster; Adele A. Mitchell; Tania Fuchs; Rachel Saunders-Pullman; Deborah Raymond; Mitchell F. Brin; Andrew Blitzer; Susan B. Bressman; Laurie J. Ozelius

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
69 KB
Volume
25
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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. Β© 2010 Movement Disorder Society

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