Article
ATP13A2 variability in Parkinson disease.
Human mutation - 1 Mar 2009
Vilariño-Güell Carles, Soto Alexandra I, Lincoln Sarah J, Ben Yahmed Samia, Kefi Mounir, Heckman Michael G, Hulihan Mary M, Chai Hua, Diehl Nancy N, Amouri Rim, Rajput Alex, Mash Deborah C, Dickson Dennis W, Middleton Lefkos T, Gibson Rachel A, Hentati Faycal, Farrer Matthew J
Abstract excerpt
Recessively inherited mutations in ATP13A2 result in Kufor-Rakeb syndrome (KRS), whereas genetic variability and elevated ATP13A2 expression have been implicated in Parkinson disease (PD). Given this background, ATP13A2 was comprehensively assessed to support or refute its contribution to PD. Sequencing of ATP13A2 exons and intron-exon boundaries was performed in 89 probands with familial parkinsonism from...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.