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

Cerebellum (London, England) - 1 Feb 2024

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

Abstract excerpt

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.

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Identifiers

PMID: 36757662
DOI: 10.1007/s12311-023-01527-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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