期刊
NEUROLOGIC CLINICS
卷 31, 期 4, 页码 929-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ncl.2013.05.003
关键词
Amyotrophic lateral sclerosis; ALS; Genetics; Phenotypes
资金
- National Institutes of Health (NIH) [NS055980, NS069669, NS075094]
- Burroughs Wellcome Fund
Our understanding of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease, is expanding rapidly as its genetic causes are uncovered. The pace of new gene discovery over the last 5 years has accelerated, providing new insights into the pathogenesis of disease and highlighting biological pathways as targets for therapeutic development. This article reviews our current understanding of the heritability of ALS and provides an overview of each of the major ALS genes, highlighting their phenotypic characteristics and frequencies as a guide for clinicians evaluating patients with ALS.
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