ALS: Recent Developments from Genetics Studies.
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.
University of Montreal, Montreal, QC, Canada.
Martine
M
Therrien
Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
Patrick A
PA
Dion
Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. guy.rouleau@mcgill.ca.
Guy A
GA
Rouleau
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000818:Animals; D000073885:C9orf72 Protein; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011506:Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; C554426:CHCHD10 protein, human; C518587:MATR3 protein, human; D024101:Mitochondrial Proteins; D034521:Nuclear Matrix-Associated Proteins; D011506:Proteins; D016601:RNA-Binding Proteins; D017346:Protein Serine-Threonine Kinases; C403191:TBK1 protein, human
ALS; Genetics; Motor neuron diseases