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Article

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.

Movement disorders : official journal of the Movement Disorder Society - 15 Oct 2010

Novak Marianne J U, Sweeney Mary G, Li Abi, Treacy Colm, Chandrashekar Hoskote S, Giunti Paola, Goold Robert G, Davis Mary B, Houlden Henry, Tabrizi Sarah J

Abstract excerpt

The purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has...

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Source

Identifiers

PMID: 20669319
DOI: 10.1002/mds.23223

Genes

ITPR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.PMID 20669319Read ↗

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