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Article

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Cerebellum (London, England) - 1 Mar 2010

Di Gregorio Eleonora, Orsi Laura, Godani Massimiliano, Vaula Giovanna, Jensen Stella, Salmon Eric, Ferrari Giancarlo, Squadrone Stefania, Abete Maria Cesarina, Cagnoli Claudia, Brussino Alessandro, Brusco Alfredo

Abstract excerpt

Spinocerebellar ataxia type15 (SCA15) is a pure ataxia characterized by very slow progression. Only seven families have been identified worldwide, in which partial deletions and a missense mutation of the inositol triphosphate receptor type I gene (ITPR1) have been reported. We examined a four-ge...

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Source

Identifiers

PMID: 20082166
DOI: 10.1007/s12311-009-0154-0

Genes

ITPR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20082166-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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