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Article

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.

Clinical genetics - 1 Dec 2004

Shatunov A, Fridman E A, Pagan F I, Leib J, Singleton A, Hallett M, Goldfarb L G

Abstract excerpt

A 20-year-old North American patient developed rapidly progressive cognitive decline and pronounced ataxia, a phenotype compatible with prion disease. No structural changes were found in the PRNP gene, which excludes genetic prion disease, but the patient's PRNP codon 129 Met/Met genotype is known to predispose to variant Creutzfeldt-Jakob disease (vCJD). Further studies identified an expanded allele with 55...

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Source

Identifiers

PMID: 15521976
DOI: 10.1111/j.1399-0004.2004.00356.x

Genes

TBP
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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