1. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.
- Author
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Kamm C, Asmus F, Mueller J, Mayer P, Sharma M, Muller UJ, Beckert S, Ehling R, Illig T, Wichmann HE, Poewe W, Mueller JC, and Gasser T
- Subjects
- Adult, Age Factors, Austria, DNA Mutational Analysis, Dystonic Disorders metabolism, Dystonic Disorders physiopathology, Female, Gene Frequency, Genetic Markers genetics, Genetic Testing, Genotype, Germany, Haplotypes genetics, Humans, Male, Mutation genetics, Sex Factors, Brain Chemistry genetics, Dystonic Disorders genetics, Genetic Predisposition to Disease genetics, Molecular Chaperones genetics, Polymorphism, Single Nucleotide genetics
- Abstract
Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population. Here we report a strong association of two single nucleotide polymorphisms within or in close proximity to the TOR1A 3'UTR, with the lowest p value being 0.000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia.
- Published
- 2006
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