Sequeira, MartaGodinho, FilipeLourenço, João2025-07-252025-07-252024-08Cerebellum . 2024 Aug;23(4):1702-170438049694http://hdl.handle.net/10400.17/5116Amyotrophic 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.enAmyotrophic lateral sclerosisCerebellar ataxiaCerebellumSOD1HSJ NEUtext10.1007/s12311-023-01643-0