De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

Abstract 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 patients. To date, no systematic evaluation on the frequency of de novo FUS mutations in early-onset ALS patients has been conducted. Here, we screened a cohort of 14 early-onset sporadic ALS patients (onset age