Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

doi:10.1007/s00415-007-0540-9

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Article

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

Journal of neurology - 1 Nov 2007

Shiga Yusei, Satoh Katsuya, Kitamoto Tetsuyuki, Kanno Sigenori, Nakashima Ichiro, Sato Shigeru, Fujihara Kazuo, Takata Hiroshi, Nobukuni Keigo, Kuroda Shigetoshi, Takano Hiroki, Umeda Yoshitaka, Konno Hidehiko, Nagasato Kunihiko, Satoh Akira, Matsuda Yoshito, Hidaka Mitsuru, Takahashi Hirokatsu, Sano Yasuteru, Kim Kang, Konishi Takashi, Doh-ura Katsumi, Sato Takeshi, Sasaki Kensuke, Nakamura Yoshikazu, Yamada Masahito, Mizusawa Hidehiro, Itoyama Yasuo

Abstract excerpt

OBJECTIVE: To describe the clinical features of Creutzfeldt-Jakob disease with a substitution of arginine for methionine (M232R substitution) at codon 232 (CJD232) of the prion protein gene (PRNP). PATIENTS AND METHODS: We evaluated the clinical and laboratory features of 20 CJD232 patients: age of onset, initial symptoms, duration until becoming akinetic and mute, duration until occurrence of periodic sharp and...

Topics

14-3-3 Proteins
Aged
Arginine
Creutzfeldt-Jakob Syndrome
Electroencephalography
Female
Humans
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Methionine

Middle Aged

Mutation

Phenotype

Prions

Source

Open in PubMed

Identifiers

PMID: 17965961
DOI: 10.1007/s00415-007-0540-9

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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