Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations
Open Access
- 1 August 2011
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 68 (8), 1057-1061
- https://doi.org/10.1001/archneurol.2011.178
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal paralytic disorder caused by degeneration of motor neurons in the brain and spinal cord. Most cases appear as sporadic ALS (SALS) of unknown etiology. Approximately 5% to 10% of patients with ALS have a family history of the disease, but familial ALS (FALS) is genetically heterogeneous. Genetic mutations in the Cu/Zn superoxide dismutase gene, SOD1, are the most frequent cause of ALS, accounting for approximately 20% of FALS and 1% of SALS cases.1,2 An additional 8% to 10% of FALS is accounted for by mutations in the TDP43 and FUS genes.3-6 Mutations in several other genes, including DCTN1, ALSIN, SETX, VAPB, ANG, FIG4, PONs, DAO, and VCP, have been linked7-16 to fewer cases of ALS or ALS-like syndromes.Keywords
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