Genetics of sporadic ALS.
The only known gene to be involved in ALS is the CuZn-superoxide dismutase (CuZn-SOD) gene. Since 1993, 89 disease-associated mutations have been found in this gene, 14 of them in cases with apparently sporadic ALS. Most frequent are the D90A (most often with recessive inheritance, but a few with dominant inheritance) and the I113T (dominant inheritance with variable penetrance). Statistical and genealogical evidence suggest that quite a number of diagnosed sporadic cases may in fact be familial cases in pedigrees with very low disease penetrance.
Andersen
P M
PM
Department of Neurology, Umeå University Hospital, Sweden. Peter.Andersen@neuro.umu.se
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D013482:Superoxide Dismutase / Q000235:genetics*
D013482:Superoxide Dismutase