FUS mutations in sporadic amyotrophic lateral sclerosis

Shiao Lin Lai; Yevgeniya Abramzon; Jennifer C. Schymick; Dietrich A. Stephan; Travis Dunckley; Allissa Dillman; Mark Cookson; Andrea Calvo; Stefania Battistini; Fabio Giannini; Claudia Caponnetto; Giovanni Luigi Mancardi; Rossella Spataro; Maria Rosaria Monsurro; Gioacchino Tedeschi; Kalliopi Marinou; Mario Sabatelli; Amelia Conte; Jessica Mandrioli; Patrizia Sola; Fabrizio Salvi; Ilaria Bartolomei; Federica Lombardo; Gabriele Mora; Gabriella Restagno; Adriano Chiò; Bryan J. Traynor

doi:10.1016/j.neurobiolaging.2009.12.020

FUS mutations in sporadic amyotrophic lateral sclerosis

Shiao Lin Lai, Yevgeniya Abramzon, Jennifer C. Schymick, Dietrich A. Stephan, Travis Dunckley, Allissa Dillman, Mark Cookson, Andrea Calvo, Stefania Battistini, Fabio Giannini, Claudia Caponnetto, Giovanni Luigi Mancardi, Rossella Spataro, Maria Rosaria Monsurro, Gioacchino Tedeschi, Kalliopi Marinou, Mario Sabatelli, Amelia Conte, Jessica Mandrioli, Patrizia SolaFabrizio Salvi, Ilaria Bartolomei, Federica Lombardo, Gabriele Mora, Gabriella Restagno, Adriano Chiò, Bryan J. Traynor

ASU-Banner Neurodegenerative Disease Research Center (NDRC)

Research output: Contribution to journal › Article › peer-review

78 Scopus citations

Abstract

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.

Original language	English (US)
Pages (from-to)	550.e1-550.e4
Journal	Neurobiology of Aging
Volume	32
Issue number	3
DOIs	https://doi.org/10.1016/j.neurobiolaging.2009.12.020
State	Published - Mar 2011

Keywords

Amyotrophic lateral sclerosis
FUS
Italy
Sporadic disease
United States of America

ASJC Scopus subject areas

Clinical Neurology
Geriatrics and Gerontology
Aging
General Neuroscience
Developmental Biology

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10.1016/j.neurobiolaging.2009.12.020

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Lai, S. L., Abramzon, Y., Schymick, J. C., Stephan, D. A., Dunckley, T., Dillman, A., Cookson, M., Calvo, A., Battistini, S., Giannini, F., Caponnetto, C., Mancardi, G. L., Spataro, R., Monsurro, M. R., Tedeschi, G., Marinou, K., Sabatelli, M., Conte, A., Mandrioli, J., ... Traynor, B. J. (2011). FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 32(3), 550.e1-550.e4. https://doi.org/10.1016/j.neurobiolaging.2009.12.020

Lai, SL, Abramzon, Y, Schymick, JC, Stephan, DA, Dunckley, T, Dillman, A, Cookson, M, Calvo, A, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, GL, Spataro, R, Monsurro, MR, Tedeschi, G, Marinou, K, Sabatelli, M, Conte, A, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Lombardo, F, Mora, G, Restagno, G, Chiò, A & Traynor, BJ 2011, 'FUS mutations in sporadic amyotrophic lateral sclerosis', Neurobiology of Aging, vol. 32, no. 3, pp. 550.e1-550.e4. https://doi.org/10.1016/j.neurobiolaging.2009.12.020

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title = "FUS mutations in sporadic amyotrophic lateral sclerosis",

abstract = "Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.",

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author = "Lai, {Shiao Lin} and Yevgeniya Abramzon and Schymick, {Jennifer C.} and Stephan, {Dietrich A.} and Travis Dunckley and Allissa Dillman and Mark Cookson and Andrea Calvo and Stefania Battistini and Fabio Giannini and Claudia Caponnetto and Mancardi, {Giovanni Luigi} and Rossella Spataro and Monsurro, {Maria Rosaria} and Gioacchino Tedeschi and Kalliopi Marinou and Mario Sabatelli and Amelia Conte and Jessica Mandrioli and Patrizia Sola and Fabrizio Salvi and Ilaria Bartolomei and Federica Lombardo and Gabriele Mora and Gabriella Restagno and Adriano Chi{\`o} and Traynor, {Bryan J.}",

note = "Funding Information: This research was supported in part by the Intramural Research Program of the NIH, National Institute on Aging ( Z01-AG000949-02 ). The work was also supported by Ministero della Salute, Ricerca Sanitaria Finalizzata 2007 (to AC, GR and GM); Fon-dazione Vialli e Mauro for ALS, Torino (to AC and GM); and Regione Piemonte, Progetti Finalizzati (to GR). ",

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AU - Schymick, Jennifer C.

AU - Stephan, Dietrich A.

AU - Dunckley, Travis

AU - Dillman, Allissa

AU - Cookson, Mark

AU - Calvo, Andrea

AU - Battistini, Stefania

AU - Giannini, Fabio

AU - Caponnetto, Claudia

AU - Mancardi, Giovanni Luigi

AU - Spataro, Rossella

AU - Monsurro, Maria Rosaria

AU - Tedeschi, Gioacchino

AU - Marinou, Kalliopi

AU - Sabatelli, Mario

AU - Conte, Amelia

AU - Mandrioli, Jessica

AU - Sola, Patrizia

AU - Salvi, Fabrizio

AU - Bartolomei, Ilaria

AU - Lombardo, Federica

AU - Mora, Gabriele

AU - Restagno, Gabriella

AU - Chiò, Adriano

AU - Traynor, Bryan J.

N1 - Funding Information: This research was supported in part by the Intramural Research Program of the NIH, National Institute on Aging ( Z01-AG000949-02 ). The work was also supported by Ministero della Salute, Ricerca Sanitaria Finalizzata 2007 (to AC, GR and GM); Fon-dazione Vialli e Mauro for ALS, Torino (to AC and GM); and Regione Piemonte, Progetti Finalizzati (to GR).

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N2 - Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.

AB - Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.

KW - Amyotrophic lateral sclerosis

KW - FUS

KW - Italy

KW - Sporadic disease

KW - United States of America

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FUS mutations in sporadic amyotrophic lateral sclerosis

Abstract

Keywords

ASJC Scopus subject areas

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