Article
Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.
Neurology - 28 Nov 2006
Kamm C, Asmus F, Mueller J, Mayer P, Sharma M, Muller U J, Beckert S, Ehling R, Illig T, Wichmann H E, Poewe W, Mueller J C, Gasser T
Abstract excerpt
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.
Topics
- Adult
- Age Factors
- Austria
- Brain Chemistry
- DNA Mutational Analysis
- Dystonic Disorders
- Female
- Gene Frequency
- Genetic Markers
- Genetic Predisposition to Disease
- Genetic Testing
- Genotype
- Germany
- Haplotypes