Genetics of sporadic ALS

摘要

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 l113T (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.