Article
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Neurobiology of aging - 1 Nov 2015
Hübers Annemarie, Just Walter, Rosenbohm Angela, Müller Kathrin, Marroquin Nicolai, Goebel Ingrid, Högel Josef, Thiele Holger, Altmüller Janine, Nürnberg Peter, Weishaupt Jochen H, Kubisch Christian, Ludolph Albert C, Volk Alexander E
Abstract excerpt
In amyotrophic lateral sclerosis (ALS) patients with known genetic cause, mutations in chromosome 9 open reading frame 72 (C9orf72) and superoxide dismutase 1 (SOD1) account for most familial and late-onset sporadic cases, whereas mutations in fused in sarcoma (FUS) can be identified in just around 5% of familial and 1% of overall sporadic cases. There are only few reports on de novo FUS mutations in juvenile ALS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.