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Molecular Neurodegeneration
Published in: Molecular Neurodegeneration 1/2013

Open Access 01-12-2013 | Review

Genetics of amyotrophic lateral sclerosis: an update

Authors: Sheng Chen, Pavani Sayana, Xiaojie Zhang, Weidong Le

Published in: Molecular Neurodegeneration | Issue 1/2013

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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.
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Metadata
Title
Genetics of amyotrophic lateral sclerosis: an update
Authors
Sheng Chen
Pavani Sayana
Xiaojie Zhang
Weidong Le
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Molecular Neurodegeneration / Issue 1/2013
Electronic ISSN: 1750-1326
DOI
https://doi.org/10.1186/1750-1326-8-28

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