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Nat Neurosci. 2014 Jan;17(1):17-23. doi: 10.1038/nn.3584. Epub 2013 Dec 26.

State of play in amyotrophic lateral sclerosis genetics.

Author information

1
Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
2
Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
3
1] Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. [2] Department of Neurology, Brain Sciences Institute, Johns Hopkins University, Baltimore, Maryland, USA.

Abstract

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, C9ORF72 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.

PMID:
24369373
PMCID:
PMC4544832
DOI:
10.1038/nn.3584
[Indexed for MEDLINE]
Free PMC Article
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