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Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Author(s) -
Sharma Nutan,
Franco Ramon A.,
Kuster John K.,
Mitchell Adele A.,
Fuchs Tania,
SaundersPullman Rachel,
Raymond Deborah,
Brin Mitchell F.,
Blitzer Andrew,
Bressman Susan B.,
Ozelius Laurie J.
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23225
Subject(s) - dystonia , locus (genetics) , association (psychology) , medicine , genetic association , focal dystonia , genetics , neuroscience , physical medicine and rehabilitation , biology , psychology , genotype , single nucleotide polymorphism , gene , psychotherapist
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. © 2010 Movement Disorder Society