期刊
NATURE NEUROSCIENCE
卷 17, 期 1, 页码 17-23出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nn.3584
关键词
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资金
- Intramural Research Programs of the US National Institutes of Health
- National Institute on Aging [Z01-AG000949-02]
- National Institute of Neurological Disorders and Stroke
- Packard Center for ALS Research at Hopkins
- ALS Association
- Microsoft Research
- AriSLA
- Italian Health Ministry (Ricerca Sanitaria Finalizzata)
- Fondazione Vialli e Mauro ONLUS
- Federazione Italiana Giuoco Calcio
- Compagnia di San Paolo
- European Community [259867]
- NATIONAL INSTITUTE ON AGING [Z01AG000949, ZIAAG000933] Funding Source: NIH RePORTER
Considerable progress has been made in unraveling the genetic etiology of amyotrophic lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the third most common neurodegenerative disease overall. Here we review genes implicated in the pathogenesis of motor neuron degeneration and how this new information is changing the way we think about this fatal disorder. Specifically, we summarize current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C90RF72 and PFN1, and evaluate the information being gleaned from genome-wide association studies. We also outline emerging themes in ALS research, such as next-generation sequencing approaches to identify de novo mutations, the genetic convergence of familial and sporadic ALS, the proposed oligogenic basis for the disease, and how each new genetic discovery is broadening the phenotype associated with the clinical entity we know as ALS.
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