ALS: Recent Developments from Genetics Studies.

TitreALS: Recent Developments from Genetics Studies.
Publication TypeJournal Article
Year of Publication2016
AuthorsTherrien M, Dion PA, Rouleau GA
JournalCurr Neurol Neurosci Rep
Volume16
Issue6
Pagination59
Date Published2016 Jun
ISSN1534-6293
KeywordsAmyotrophic Lateral Sclerosis, Animals, Humans, Mitochondrial Proteins, Mutation, Nuclear Matrix-Associated Proteins, Protein-Serine-Threonine Kinases, Proteins, RNA-Binding Proteins
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.

DOI10.1007/s11910-016-0658-1
Alternate JournalCurr Neurol Neurosci Rep
PubMed ID27113253