Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia

Abstract

Abstract Amyotrophic Lateral Sclerosis is a fatal neurodegenerative disorder known to affect upper and lower motor neurons, being SOD1 mutations the second most commonly found in familial and sporadic cases. We describe a patient with a pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed.