Mutations in the superoxide dismutase 1 (SOD]) gene, which encodes cytosolic Cu/Zn superoxide dismutase (SOD1), are most prevalent with the inherited form of ALS (fALS). Familial ALS (fALS) accounts for 10% of all ALS cases; the rest appear as sporadic ALS (sALS).1 Although the etiology of the more common sALS is largely unknown, symptoms and pathology associated with SOD 1-related ALS mirror those in sALS. Since the initial discovery that mutations in SOD1 could cause ALS,2 more than 160 SOD I mutations have been identified in ALS patients flittp://alsod,iop,kcl,ac,uk/'), accounting for approximately 20% of fALS cases.3 SOD1 aggregates in motor neurons are the histopathologic hallmark of SOD1 -mediated ALS.
展开▼
