TY - JOUR
T1 - FUS mutations in sporadic amyotrophic lateral sclerosis
AU - Spataro, Rossella
AU - Mancardi, Giovanni Luigi
AU - Lai, Shiao-Lin
AU - Schymick, Jennifer C.
AU - Marinou, Kalliopi
AU - Bartolomei, Ilaria
AU - Conte, Amelia
AU - Lombardo, Federica
AU - Stephan, Dietrich A.
AU - Abramzon, Yevgeniya
AU - Dillman, Allissa
AU - Sola, Patrizia
AU - Monsurro, Maria Rosaria
AU - Calvo, Andrea
AU - Mandrioli, Jessica
AU - Dunckley, Travis
AU - Caponnetto, Claudia
AU - Battistini, Stefania
AU - Traynor, Bryan J.
AU - Sabatelli, Mario
AU - Restagno, Gabriella
AU - Calvo, Andrea
AU - Chiò, Adriano
AU - Cookson, Mark
AU - Salvi, Fabrizio
AU - Mora, Gabriele
AU - Giannini, Fabio
AU - Tedeschi, Gioacchino
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. © 2010 .
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. © 2010 .
KW - FUS
KW - amyotrophic lateral sclerosis
KW - genetics
KW - FUS
KW - amyotrophic lateral sclerosis
KW - genetics
UR - http://hdl.handle.net/10447/55742
M3 - Article
VL - 32
SP - 550.e1-550.e4
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
ER -