FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS : MUTANT CU/ZN SUPEROXIDE DISMUTASE

Abstract

Six Japanese families with familial amyotrophic lateral sclerosis (FALS) were subjected to genetic analysis of the Cu/Zn superoxi.de dismutase gene (SOD 1). Sequence analysis revealed two novel mutations in two independent families. A T-to-A transversion causes a Val 17 Glu substitution in one family. A T-to-G mutation leads to a Leu 8 Val substitution in another family. Other four families had unique clinical symptoms, and normal coding sequences of the SOD 1 gene, suggesting that FALS is a complex of heterogeneous motor neuron diseases.