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

Abstract

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 ∼4% of familial amyotrophic lateral sclerosis cases in the Italian population. © 2009 by AAN Enterprises, Inc. All rights reserved.