Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia

We describe a patient with a homozygous 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.PMID:38049694 | DOI:10.1007/s12311-023-01643-0

Source: Cerebellum - December 4, 2023 Category: Neuroscience Authors: Marta Sequeira Filipe Godinho Jo ão Lourenço Source Type: research