Etiology of familial ALS
mutations in cytosolic Cu/Zn superoxide dismutase (SOD1) (25% of familial ALS)
16q12.1-16q12.2 locus (#12858291#, #12840784#, #12830400#)
ALS8 locus at 20q13.3: germline mutations in the VAPB gene coding for vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) (#15372378#, #12858291#)
References
Bendotti C, Carri MT. Lessons from models of SOD1-linked familial ALS. Trends Mol Med. 2004 Aug;10(8):393-400. PMID: #15310460#
Newbery HJ, Abbott CM. Of mice, men and motor neurons. Trends Mol Med. 2002 Feb;8(2):88-92. PMID: #11815275#
Siddique T, Deng HX. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet. 1996;5 Spec No:1465-70. PMID: #8875253#