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.
Keywords: Amyotrophic lateral sclerosis; Cerebellar ataxia; Ceruloplasmin; Neurodegeneration; SOD1.
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