FUS mutations in sporadic amyotrophic lateral sclerosis

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• 作者：Shiao-Lin Lai^a ; ^b ; ^c ; ¹ ; Yevgeniya Abramzon^a ; ¹ ; Jennifer C. Schymick^a ; ^d ; Dietrich A. Stephan^e ; ^f ; Travis Dunckley^g ; Allissa Dillman^h ; Mark Cookson^h ; Andrea Calvoⁱ ; Stefania Battistini^j ; Fabio Giannini^j ; Claudia Caponnetto^k ; Giovanni Luigi Mancardi^k ; Rossella Spataro^l ; Maria Rosaria Monsurro^m ; ⁿ ; Gioacchino Tedeschi^m ; ⁿ ; Kalliopi Marinou^o ; Mario Sabatelli^p ; Amelia Conte^p ; Jessica Mandrioli^q ; Patrizia Sola^q ; Fabrizio Salvi^r ; Ilaria Bartolomei^r ; Federica Lombardo^s ; the ITALSGEN Consortium² ; Gabriele Mora^o ; Gabriella Restagno^s ; ¹ ; Adriano Chiò ; ⁱ ; ¹ ; Bryan J. Traynor^a ; ¹ ; ^{traynorb@mail.nih.gov}
• 关键词：Amyotrophic lateral sclerosis ; Sporadic disease ; FUS ; Italy ; United States of America
• 刊名：Neurobiology of Aging
• 出版年：2011
• 出版时间：March 2011
• 年：2011
• 卷：32
• 期：3
• 页码：550.e1-550.e4
• 全文大小：239 K

文摘

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.