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

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 analy...

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Veröffentlicht in:	Cerebellum (London, England) England), 2024-02, Vol.23 (1), p.205-209
Hauptverfasser:	Marsili, Luca, Davis, Jennie L., Espay, Alberto J., Gilthorpe, Jonathan, Williams, Chloe, Kauffman, Marcelo A., Porollo, Aleksey
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyotrophic lateral sclerosis Ataxia Atrophy Biomedical and Life Sciences Biomedicine Brief Report Cerebellar ataxia Cerebellum Ceruloplasmin Copper Genetic analysis Genotype & phenotype Motor neuron diseases Motor neurone disease Mutation Neurobiology Neurodegeneration Neurology Neurosciences Phenotypes Protein structure Proteins SOD1 Superoxide dismutase Thrombosis Tremor (Muscular contraction)
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Beschreibung
Zusammenfassung:	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.
ISSN:	1473-4230 1473-4222 1473-4230
DOI:	10.1007/s12311-023-01527-3