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

doi:10.1212/WNL.0b013e3181bbff05

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 journal › Article › peer-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 language	English
Pages (from-to)	1180-1185
Number of pages	6
Journal	Neurology
Volume	73
Issue number	15
DOIs	https://doi.org/10.1212/WNL.0b013e3181bbff05
Publication status	Published - Oct 2009

ASJC Scopus subject areas

Clinical Neurology

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10.1212/WNL.0b013e3181bbff05

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title = "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.",

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

year = "2009",

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doi = "10.1212/WNL.0b013e3181bbff05",

language = "English",

volume = "73",

pages = "1180--1185",

journal = "Neurology",

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TY - JOUR

T1 - Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

AU - Ticozzi, N.

AU - Silani, V.

AU - Leclerc, A. L.

AU - Keagle, P.

AU - Gellera, C.

AU - Ratti, A.

AU - Taroni, F.

AU - Kwiatkowski, T. J.

AU - McKenna-Yasek, D. M.

AU - Sapp, P. C.

AU - Brown, R. H.

AU - Landers, J. E.

PY - 2009/10

Y1 - 2009/10

N2 - 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.

AB - 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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JO - Neurology

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

Abstract

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