Torsin A haplotype predisposes to idiopathic dystonia.
Previous work has suggested that in many neurological diseases genetic variability in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population-based sample of dystonia cases, we show an association with the torsin A haplotype and sporadic idiopathic dystonia.
Clarimon
Jordi
J
Laboratory of Neurogenetics, Porter Building, Bethesda, MD, USA.
Asgeirsson
Hilmir
H
Singleton
Andrew
A
Jakobsson
Finnbogi
F
Hjaltason
Haukur
H
Hardy
John
J
Sveinbjornsdottir
Sigurlaug
S
D000483:Alleles; D004421:Dystonia / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011153:Population
D018832:Molecular Chaperones; C108175:TOR1A protein, human