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

Luca Marsili, Jennie L Davis, Alberto J Espay, Jonathan Gilthorpe, Chloe Williams, Marcelo A Kauffman, Aleksey Porollo

Cerebellum (London, England) 2024 Feb

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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 possibly contributed to a multi-factorial phenotype, supported by genetic and protein structure analyses. © 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Citation

Luca Marsili, Jennie L Davis, Alberto J Espay, Jonathan Gilthorpe, Chloe Williams, Marcelo A Kauffman, Aleksey Porollo. SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier? Cerebellum (London, England). 2024 Feb;23(1):205-209