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Article

Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques.

Archives of neurology - 1 Mar 2006

Basset-Leobon Céline, Uro-Coste Emmanuelle, Peoc'h Katell, Haik Stéphane, Sazdovitch Véronique, Rigal Mathieu, Andreoletti Olivier, Hauw Jean-Jacques, Delisle Marie-Bernadette

Abstract excerpt

OBJECTIVE: To report the clinical and neuropathological features in the first patient seen, to our knowledge, with familial Creutzfeldt-Jakob disease and an R208H mutation associated with a Val/Val homozygosity at codon 129 in the prion protein gene (PRNP) and a type 2 protease-resistant prion protein. PATIENT AND RESULTS: A 61-year-old man with a long-standing history of memory loss and emotional disorders had...

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PMID: 16533975
DOI: 10.1001/archneur.63.3.449

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PRNP

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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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