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GTR Home > Conditions/Phenotypes > Autosomal recessive spinocerebellar ataxia 16

Autosomal recessive spinocerebellar ataxia 16

Summary

Autosomal recessive spinocerebellar ataxia-16 (SCAR16) is a progressive neurologic disorder characterized by truncal and limb ataxia, resulting in gait instability, associated with cerebellar atrophy on brain imaging. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, hyperreflexia of the lower limbs, and mild peripheral sensory neuropathy. Some patients have gonadal dysfunction or hypogonadism and/or cognitive deficits. The phenotype represents a spectrum or continuum of neurodegenerative features that may overlap with those of SCA48 (summary by Shi et al., 2013 and Ravel et al., 2021). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHIP, HSPABP2, NY-CO-7, SCA48, SCAR16, SDCCAG7, UBOX1, STUB1
    Summary: STIP1 homology and U-box containing protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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