Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.

Mutations of the SOD1 gene encoding the free radical scavenging enzyme copper-zinc superoxide dismutase (CuZn-SOD) occur in patients with familial amyotrophic lateral sclerosis (ALS). Recent reports have shown homozygosity for a CuZn-SOD mutation in exon 4, the D90A (Asp90A1a) mutation. Other mutations described to date show an autosomal dominant pattern of inheritance. This is the first description of autosomal recessively inherited ALS in an out-bred population in central Europe. This study confirms the earlier described characteristic phenotype reported in D90A homozygous ALS patients in Scandinavia and supports the theory of the existence of a strong modifying factor in some cases of ALS associated with mutations in the CuZn-SOD gene.