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Article

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Orphanet journal of rare diseases - 17 Sept 2012

Huang Lijia, Chardon Jodi Warman, Carter Melissa T, Friend Kathie L, Dudding Tracy E, Schwartzentruber Jeremy, Zou Ruobing, Schofield Peter W, Douglas Stuart, Bulman Dennis E, Boycott Kym M

Abstract excerpt

BACKGROUND: Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in...

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Source

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Identifiers

PMID: 22986007
DOI: 10.1186/1750-1172-7-67
PMCID: PMC3545966

Genes

ITPR1

Provenance

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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