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Mol Neurodegener. 2013 Aug 13;8:28. doi: 10.1186/1750-1326-8-28.

Genetics of amyotrophic lateral sclerosis: an update.

Author information

1
Institute of Neurology, Jiao Tong University School of Medicine, 1201 Room, 11 Building, Ruijin Er Road, Shanghai 200025, China. wdle@sibs.ac.cn.

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder involving both upper motor neurons (UMN) and lower motor neurons (LMN). Enormous research has been done in the past few decades in unveiling the genetics of ALS, successfully identifying at least fifteen candidate genes associated with familial and sporadic ALS. Numerous studies attempting to define the pathogenesis of ALS have identified several plausible determinants and molecular pathways leading to motor neuron degeneration, which include oxidative stress, glutamate excitotoxicity, apoptosis, abnormal neurofilament function, protein misfolding and subsequent aggregation, impairment of RNA processing, defects in axonal transport, changes in endosomal trafficking, increased inflammation, and mitochondrial dysfunction. This review is to update the recent discoveries in genetics of ALS, which may provide insight information to help us better understanding of the disease neuropathogenesis.

PMID:
23941283
PMCID:
PMC3766231
DOI:
10.1186/1750-1326-8-28
[Indexed for MEDLINE]
Free PMC Article

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