ALS: recent developments from genetics studies

M Therrien, PA Dion, GA Rouleau - Current neurology and neuroscience …, 2016 - Springer
Current neurology and neuroscience reports, 2016Springer
Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive
degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but
5–10% of cases have a family history of the disease. High-throughput DNA sequencing and
related genomic capture tools are methodological advances which have rapidly contributed
to an acceleration in the discovery of genetic risk factors for both familial and sporadic ALS. It
is interesting to note that as the number of ALS genes grows, many of the proteins they …
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5–10 % of cases have a family history of the disease. High-throughput DNA sequencing and related genomic capture tools are methodological advances which have rapidly contributed to an acceleration in the discovery of genetic risk factors for both familial and sporadic ALS. It is interesting to note that as the number of ALS genes grows, many of the proteins they encode are in shared intracellular processes. This review will summarize some of the recent advances and gene discovery made in ALS.
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