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Article

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

Nature genetics - 1 Nov 2003

Bomar Jamee M, Benke Paul J, Slattery Eric L, Puttagunta Radhika, Taylor Larry P, Seong Eunju, Nystuen Arne, Chen Weidong, Albin Roger L, Patel Paresh D, Kittles Rick A, Sheffield Val C, Burmeister Margit

Abstract excerpt

Cayman ataxia is a recessive congenital ataxia restricted to one area of Grand Cayman Island. Comparative mapping suggested that the locus on 19p13.3 associated with Cayman ataxia might be homologous to the locus on mouse chromosome 10 associated with the recessive ataxic mouse mutant jittery. Screening genes in the region of overlap identified mutations in a novel predicted gene in three mouse jittery alleles,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14556008
DOI: 10.1038/ng1255

Genes

TRIO
ATCAY
TTPA

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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