Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of age at onset variability. Employing a genome-wide association study to identify additional factors modifying age at onset, we establish that three independent loci are significantly associated with age at onset. The […]