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Published online before print September 9, 2009, doi:10.1212/WNL.0b013e3181bbff05)
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Received March 19, 2009
Accepted July 1, 2009

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

N. Ticozzi MD, V. Silani MD, A. L. LeClerc BA, P. Keagle BS, C. Gellera PhD, A. Ratti PhD, F. Taroni MD, T. J. Kwiatkowski Jr. MD, PhD, D. M. McKenna-Yasek RN, BSN, P. C. Sapp BS, R. H. Brown Jr. MD, DPhil, and J. E. Landers PhD*

From the Department of Neurology (N.T., A.L.L., P.K., D.M.M.-Y., P.C.S., R.H.B., J.E.L.), University of Massachusetts Medical School, Worcester; Department of Neurology and Laboratory of Neuroscience (N.T., V.S., A.R.), Centro "Dino Ferrari," Università degli Studi di Milano-IRCCS Istituto Auxologico Italiano, Milan; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.G., F.T.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Department of Neurology (T.J.K.), Massachusetts General Hospital, Boston; and Howard Hughes Medical Institute and Department of Biology (P.C.S.), Massachusetts Institute of Technology, Cambridge.


* To whom correspondence should be addressed. E-mail: john.landers{at}umassmed.edu.

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.


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