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Article

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

Brain : a journal of neurology - 1 Jul 2003

Stevanin Giovanni, Fujigasaki Hiroto, Lebre Anne-Sophie, Camuzat Agnes, Jeannequin Cecile, Dode Catherine, Takahashi Junko, San Chankranira, Bellance Robert, Brice Alexis, Durr Alexandra

Abstract excerpt

We report a group of 252 patients with a Huntington's disease-like (HDL) phenotype, including 60 with typical Huntington's disease, who had tested negative for pathological expansions in the IT15 gene, the major mutation in Huntington's disease. They were screened for repeat expansions in two other genes involved in HDL phenotypes: those encoding the junctophilin-3 (JPH3/HDL2) and prion (PRNP/HDL1) proteins. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12805114
DOI: 10.1093/brain/awg155

Genes

TBP
JPH3
PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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