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Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Nutan Sharma1, Ramon A Franco, John K Kuster
1Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. nsharma@partners.org
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.
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