title: Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
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.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. nsharma@partners.org
authors.forename: Nutan
authors.initials: N
authors.lastname: Sharma
authors.forename: Ramon A
authors.initials: RA
authors.lastname: Franco
authors.forename: John K
authors.initials: JK
authors.lastname: Kuster
authors.forename: Adele A
authors.initials: AA
authors.lastname: Mitchell
authors.forename: Tania
authors.initials: T
authors.lastname: Fuchs
authors.forename: Rachel
authors.initials: R
authors.lastname: Saunders-Pullman
authors.forename: Deborah
authors.initials: D
authors.lastname: Raymond
authors.forename: Mitchell F
authors.initials: MF
authors.lastname: Brin
authors.forename: Andrew
authors.initials: A
authors.lastname: Blitzer
authors.forename: Susan B
authors.initials: SB
authors.lastname: Bressman
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
mesh_terms: D000328:Adult; D000368:Aged; D020821:Dystonic Disorders / Q000145:classification / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D018832:Molecular Chaperones; C491547:TOR1B protein, human