Familial Amyotrophic Lateral Sclerosis
- PMID: 26515623
- PMCID: PMC4670044
- DOI: 10.1016/j.ncl.2015.07.001
Familial Amyotrophic Lateral Sclerosis
Abstract
Genes linked to amyotrophic lateral sclerosis (ALS) susceptibility are being identified at an increasing rate owing to advances in molecular genetic technology. Genetic mechanisms in ALS pathogenesis seem to exert major effects in about 10% of patients, but genetic factors at some level may be important components of disease risk in most patients with ALS. Identification of gene variants associated with ALS has informed concepts of the pathogenesis of ALS, aided the identification of therapeutic targets, facilitated research to develop new ALS biomarkers, and supported the establishment of clinical diagnostic tests for ALS-linked genes.
Keywords: ALS; Amyotrophic lateral sclerosis; Familial ALS; Genetic testing; Genetics; Phenotypes.
Copyright © 2015 Elsevier Inc. All rights reserved.
References
-
- Kurland LT, Mulder DW. Epidemiologic investigations of amyotrophic lateral sclerosis 2. Familial aggregations indicative of dominant inheritance. I. Neurology. 1955 Mar;5(3):182–96. - PubMed
-
- Kurland LT, Mulder DW. Epidemiologic investigations of amyotrophic lateral sclerosis 2. Familial aggregations indicative of dominant inheritance. II. Neurology. 1955 Apr;5(4):249–68. - PubMed
-
- Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4;362(6415):59–62. - PubMed
-
- Su XW, Broach JR, Connor JR, Gerhard GS, Simmons Z. Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research. Muscle & nerve. 2014 Jun;49(6):786–803. [Review] - PubMed
-
- den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human mutation. 2000;15(1):7–12. - PubMed
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous
