Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
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ABSTRACT:
SUBMITTER: Sharma N
PROVIDER: S-EPMC3095887 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Publications
Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
Sharma Nutan N Franco Ramon A RA Kuster John K JK Mitchell Adele A AA Fuchs Tania T Saunders-Pullman Rachel R Raymond Deborah D Brin Mitchell F MF Blitzer Andrew A Bressman Susan B SB Ozelius Laurie J LJ
Movement disorders : official journal of the Movement Disorder Society 20101001 13
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 segmen ...[more]
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