期刊
NEUROBIOLOGY OF AGING
卷 32, 期 3, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2010.05.016
关键词
Amyotrophic lateral sclerosis; FUS; de novo mutation
资金
- Fondazione Vialli e Mauro for ALS Research Onlus
- Federazione Italiana Giuoco Calcio (FICG)
- Ministero della Salute
- NIH
- National Institute on Aging [Z01 AG000949-02]
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. (C) 2011 Elsevier Inc. All rights reserved.
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