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Spinocerebellar ataxia 50

Summary

Spinocerebellar ataxia-50 (SCA50) is an autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Most patients develop symptoms as adults, although childhood onset has rarely been reported. Additional more variable features may include tremor, dysarthria, dysphagia, and cognitive impairment with executive dysfunction (Coutelier et al., 2022; Schoggl et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NP1, SCA50, NPTX1
    Summary: neuronal pentraxin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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