SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?

Abstract

We describe a novel superoxide dismutase (SOD1) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin (Cp) gene which may have contributed to the phenotype. Our conclusions are supported by the genetic and protein structure analyses of the case.

Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia

“…12 In a recent case report publication, it was highlighted the cooccurrence and potential multifactorial role of a pathogenic variant in SOD1 gene plus a variant of uncertain signi cance in Cp gene, in a patient presenting with late-onset cerebellar ataxia with an unilateral ALS pro le. 13 This raises the possibility of other co-occurrent mutations having a role in these complex phenotypes.…”