MECHANISMS IN MOTOR-NEURON DISEASE - CLUES FROM GENETIC-STUDIES

Motor neurone disease is a rapidly progressive neurodegenerative disor der, characterized by muscular weakness and wasting with fasciculation and by spasticity. While most cases are sporadic, approximately 10% a re inherited in an autosomal dominant mode. Recently, mutations in the gene encoding the free-radical scavenging enzyme superoxide dismutase -1 have been found to segregate with the disorder in 20% of familial c ases. This is an exciting development, as free radical damage has long been implicated in the pathogenesis of motor neurone disease and it r aises the possibility of novel therapeutic approaches in this otherwis e fatal condition.