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Article

Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease.

BMC neurology - 28 Jun 2021

Hassan Ahamad, Campbell Tracy, Darwent Lee, Odd Hans, Green Alison, Collinge John, Mead Simon

Abstract excerpt

BACKGROUND: Inherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare. CASE PRESENTATION: A Chinese patient presented with a rapidly progressive cognitive and motor disorder in the...

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Identifiers

PMID: 34182938
DOI: 10.1186/s12883-021-02274-w
PMCID: PMC8237416

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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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