Article

Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia

2023-08-28

Abstract excerpt

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...

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Literature Corpus work: 0e66626b-78ac-52e6-8c3b-b837be7b9ff8
DOI: 10.21203/rs.3.rs-3277654/v1

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