FUS mutations in sporadic amyotrophic lateral sclerosis

S Lai; Y Abramzon; Jc Schymick; Da Stephan; T Dunckley; A Dillman; M Cookson; A Calvo; S Battistini; F Giannini; C Caponnetto; Gl Mancardi; R Spataro; Monsurro; G Tedeschi; K Marinou; Mario Sabatelli; Amelia Conte; J Mandrioli; P Sola; F Salvi; I Bartolomei; F Lombardo; G Mora; G Restagno; A Chiò; Bj Traynor

doi:10.1016/j.neurobiolaging.2009.12.020

FUS mutations in sporadic amyotrophic lateral sclerosis

S Lai, Y Abramzon, Jc Schymick, Da Stephan, T Dunckley, A Dillman, M Cookson, A Calvo, S Battistini, F Giannini, C Caponnetto, Gl Mancardi, R Spataro, Monsurro, G Tedeschi, K Marinou, Mario Sabatelli, Amelia Conte, J Mandrioli, P SolaF Salvi, I Bartolomei, F Lombardo, G Mora, G Restagno, A Chiò, Bj Traynor

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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
Pages (from-to)	550.e1-550.e1-4
Number of pages	4
Journal	Neurobiology of Aging
Volume	32
DOIs	https://doi.org/10.1016/j.neurobiolaging.2009.12.020
Publication status	Published - 2011

Keywords

Adolescent
Adult
Aged
Aged, 80 and over
Amyotrophic Lateral Sclerosis
Child
DNA Mutational Analysis
Exons
Female
Genotype
Humans
Italy
Male
Middle Aged
Mutation
RNA-Binding Protein FUS
United States
Young Adult

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10.1016/j.neurobiolaging.2009.12.020

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Lai, S., Abramzon, Y., Schymick, J., Stephan, D., Dunckley, T., Dillman, A., Cookson, M., Calvo, A., Battistini, S., Giannini, F., Caponnetto, C., Mancardi, G., Spataro, R., Monsurro, Tedeschi, G., Marinou, K., Sabatelli, M., Conte, A., Mandrioli, J., ... Traynor, B. (2011). FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 32, 550.e1-550.e1-4. 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.",

keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Child, DNA Mutational Analysis, Exons, Female, Genotype, Humans, Italy, Male, Middle Aged, Mutation, RNA-Binding Protein FUS, United States, Young Adult, Adolescent, Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Child, DNA Mutational Analysis, Exons, Female, Genotype, Humans, Italy, Male, Middle Aged, Mutation, RNA-Binding Protein FUS, United States, Young Adult",

author = "S Lai and Y Abramzon and Jc Schymick and Da Stephan and T Dunckley and A Dillman and M Cookson and A Calvo and S Battistini and F Giannini and C Caponnetto and Gl Mancardi and R Spataro and Monsurro and G Tedeschi and K Marinou and Mario Sabatelli and Amelia Conte and J Mandrioli and P Sola and F Salvi and I Bartolomei and F Lombardo and G Mora and G Restagno and A Chi{\`o} and Bj Traynor",

year = "2011",

doi = "10.1016/j.neurobiolaging.2009.12.020",

language = "English",

volume = "32",

pages = "550.e1--550.e1--4",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier Inc.",

}

Lai, S, Abramzon, Y, Schymick, J, Stephan, D, Dunckley, T, Dillman, A, Cookson, M, Calvo, A, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, G, Spataro, R, Monsurro, 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, B 2011, 'FUS mutations in sporadic amyotrophic lateral sclerosis', Neurobiology of Aging, vol. 32, pp. 550.e1-550.e1-4. https://doi.org/10.1016/j.neurobiolaging.2009.12.020

TY - JOUR

T1 - FUS mutations in sporadic amyotrophic lateral sclerosis

AU - Lai, S

AU - Abramzon, Y

AU - Schymick, Jc

AU - Stephan, Da

AU - Dunckley, T

AU - Dillman, A

AU - Cookson, M

AU - Calvo, A

AU - Battistini, S

AU - Giannini, F

AU - Caponnetto, C

AU - Mancardi, Gl

AU - Spataro, R

AU - Monsurro,

AU - Tedeschi, G

AU - Marinou, K

AU - Sabatelli, Mario

AU - Conte, Amelia

AU - Mandrioli, J

AU - Sola, P

AU - Salvi, F

AU - Bartolomei, I

AU - Lombardo, F

AU - Mora, G

AU - Restagno, G

AU - Chiò, A

AU - Traynor, Bj

PY - 2011

Y1 - 2011

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 - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Amyotrophic Lateral Sclerosis

KW - Child

KW - DNA Mutational Analysis

KW - Exons

KW - Female

KW - Genotype

KW - Humans

KW - Italy

KW - Male

KW - Middle Aged

KW - Mutation

KW - RNA-Binding Protein FUS

KW - United States

KW - Young Adult

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Amyotrophic Lateral Sclerosis

KW - Child

KW - DNA Mutational Analysis

KW - Exons

KW - Female

KW - Genotype

KW - Humans

KW - Italy

KW - Male

KW - Middle Aged

KW - Mutation

KW - RNA-Binding Protein FUS

KW - United States

KW - Young Adult

UR - http://hdl.handle.net/10807/4507

U2 - 10.1016/j.neurobiolaging.2009.12.020

DO - 10.1016/j.neurobiolaging.2009.12.020

M3 - Article

SN - 0197-4580

VL - 32

SP - 550.e1-550.e1-4

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

FUS mutations in sporadic amyotrophic lateral sclerosis

Abstract

Keywords

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