Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia

Marta Sequeira; Filipe Godinho; João Lourenço

doi:10.1007/s12311-023-01643-0

Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia

Cerebellum. 2023 Dec 5. doi: 10.1007/s12311-023-01643-0. Online ahead of print.

Authors

Marta Sequeira¹, Filipe Godinho², João Lourenço²

Affiliations

¹ Neurology Department, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal. martasequeira117@gmail.com.
² Neurology Department, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.

PMID: 38049694
DOI: 10.1007/s12311-023-01643-0

Abstract

Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. 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.

Keywords: Amyotrophic lateral sclerosis; Cerebellar ataxia; Cerebellum; SOD1.