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

N. Ticozzi, V. Silani, A. L. Leclerc, P. Keagle, C. Gellera, A. Ratti, F. Taroni, T. J. Kwiatkowski, D. M. McKenna-Yasek, P. C. Sapp, R. H. Brown, J. E. Landers

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1180-1185
Number of pages6
JournalNeurology
Volume73
Issue number15
DOIs
Publication statusPublished - Oct 2009

ASJC Scopus subject areas

  • Clinical Neurology

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