Genetic Creutzfeldt-Jakob disease-M232R with the cooccurrence of multiple prion strains, M1 + M2C + M2T: Report of an autopsy case

Autor:	Masayuki, Shintaku, Takeshi, Nakamura, Daita, Kaneda, Akiyo, Shinde, Hirofumi, Kusaka, Atsuko, Takeuchi, Tetsuyuki, Kitamoto
Rok vydání:	2020
Předmět:	Male PrPSc Proteins Myocardium Blotting Western Middle Aged Magnetic Resonance Imaging Creutzfeldt-Jakob Syndrome Methionine Japan Thalamus Cerebellum Mutation Humans Autopsy Atrophy Cerebrum
Zdroj:	Neuropathology : official journal of the Japanese Society of NeuropathologyREFERENCES. 41(3)
ISSN:	1440-1789
Popis:	Genetic Creutzfeldt-Jakob disease (gCJD) with a methionine to arginine substitution at codon 232 of the prion protein gene (gCJD-M232R) is rare and has only been reported in Japan. We report an autopsy case of gCJD-M232R showing alleles of codon 129 that were homozygous for methionine and the presence of multiple strains of the protease-resistant, abnormal isoform of prion protein (PrP
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::bc6e42011e46a947ffef6498dc5cd553 https://pubmed.ncbi.nlm.nih.gov/33586250 Zobrazit plný text záznamu Plný text