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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 15/16

Spinocerebellar ataxia type 15/16

Synonyms
SCA16 (formerly); Spinocerebellar Ataxia Type 15; Spinocerebellar Ataxia Type15; Spinocerebellar ataxia 16 (formerly)
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Spinocerebellar ataxia type 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor, mild hyperreflexia, gaze-evoked nystagmus, and impaired vestibuloocular reflex gain. Onset is between ages seven and 72 years, usually with gait ataxia but sometimes with tremor. Affected individuals remain ambulatory for ten to 54 years after symptom onset. Mild dysphagia usually after two or more decades of symptoms has been observed in members of multiple affected families and movement-induced oscillopsia has been described in one member of an affected family. [from GeneReviews]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29, ITPR1
    Summary: inositol 1,4,5-trisphosphate receptor type 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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