Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

Objective: Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS. Methods: We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS. Results: We identified 4 distinct missense mutations in 5 patients; 2 were novel. The mutations were not present in 376 healthy Italian controls and thus are likely to be pathogenic. Conclusions: Our results demonstrate that FUS mutations cause similar to 4% of familial amyotrophic lateral sclerosis cases in the Italian population. Neurology (R) 2009; 73: 1180-1185