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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 25

Spinocerebellar ataxia type 25

Summary

Spinocerebellar ataxia-25 (SCA25) is an autosomal dominant neurologic disorder characterized by the onset of lower limb ataxia resulting in gait difficulties in the first few decades of life, although later onset has been reported. Affected individuals often have upper limb involvement, dysarthria, scoliosis, abnormal eye movements, and sensory neuropathy with decreased reflexes. Some patients have sensorineural hearing loss. Brain imaging shows cerebellar atrophy. There is incomplete penetrance and variable expressivity, even within families (Barbier et al., 2022). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

Available tests

3 tests are in the database for this condition.

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Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD13, DFNB70, OLD35, PNPASE, SCA25, old-35, PNPT1
    Summary: polyribonucleotide nucleotidyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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