A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

作者：Chio Adriano^*; Calvo Andrea; Moglia Cristina; Ossola Irene; Brunetti Maura; Sbaiz Luca; Lai Shiao lin; Abramzon Yevgeniya; Traynor Bryan J; Restagno Gabriella

来源：Neurobiology of Aging, 2011, 32(3): 553.e23.

DOI：10.1016/j.neurobiolaging.2010.05.016

• Amyotrophic lateral sclerosis
• FUS
• de novo mutation

Mutations in the Cu/Zn superoxide dismutase (SOD1) transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases. Mutations in these genes have been found in 1% to 2% of apparently sporadic cases. We present the first case of an AI,S patient carrying a de novo missense mutation of the FUS gene (c.1561C>T, p.R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo Imitations is a relevant mechanism underlying sporadic neurodegenerative disease.

• 出版日期2011-3