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Article

Spinocerebellar ataxia 15: A phenotypic review and expansion.

Neurologia i neurochirurgia polska - 1 Jan 2000

Tipton Philip W, Guthrie Kimberly, Strongosky Audrey, Reimer Ronald, Wszolek Zbigniew K

Abstract excerpt

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1....

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Identifiers

PMID: 27908616
DOI: 10.1016/j.pjnns.2016.10.006
PMCID: PMC5378493

Genes

ITPR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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