Document Detail

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.
MedLine Citation:
PMID:  17965961     Owner:  NLM     Status:  MEDLINE    
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 wave complexes on EEG (PSWC), MRI findings, and the presence of CSF 14-3-3 protein. Immunohistochemically, prion protein (PrP) deposition was studied. RESULTS: None of the patients had a family history of CJD. We recognized two clinical phenotypes: a rapidly progressive type (rapidtype) and a slowly progressive type (slow-type). Out of 20 patients, 15 became akinetic and mute, demonstrated myoclonus, and showed PSWC within a mean duration of 3.1, 2.4, and 2.8 months, respectively (rapid-type). Five showed slowly progressive clinical courses (slow-type). Five became akinetic and mute and four demonstrated myoclonus within a mean duration of 20.6 and 15.3 months, respectively, which were significantly longer than those in the rapid-type. Only one demonstrated PSWC 13 months after the onset. Diffuse synaptic-type deposition was demonstrated in four rapidtype patients, and perivacuolar and diffuse synaptic-type deposition in two, and diffuse synaptic-type deposition in one slow-type patient. Three of 50 suspected but non-CJD patients had the M232R substitution. CONCLUSIONS: Patients with CJD232 had no family history like patients with sCJD, and showed two different clinical phenotypes in spite of having the same PRNP genotype. More studies are needed to determine whether M232R substitution causes the disease and influences the disease progression.
Yusei Shiga; Katsuya Satoh; Tetsuyuki Kitamoto; Sigenori Kanno; Ichiro Nakashima; Shigeru Sato; Kazuo Fujihara; Hiroshi Takata; Keigo Nobukuni; Shigetoshi Kuroda; Hiroki Takano; Yoshitaka Umeda; Hidehiko Konno; Kunihiko Nagasato; Akira Satoh; Yoshito Matsuda; Mitsuru Hidaka; Hirokatsu Takahashi; Yasuteru Sano; Kang Kim; Takashi Konishi; Katsumi Doh-ura; Takeshi Sato; Kensuke Sasaki; Yoshikazu Nakamura; Masahito Yamada; Hidehiro Mizusawa; Yasuo Itoyama
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-11-02
Journal Detail:
Title:  Journal of neurology     Volume:  254     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-11-20     Completed Date:  2008-04-04     Revised Date:  2010-10-19    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1509-17     Citation Subset:  IM    
Department of Neurology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
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MeSH Terms
14-3-3 Proteins / cerebrospinal fluid
Arginine / genetics*
Creutzfeldt-Jakob Syndrome / genetics*,  metabolism,  pathology,  physiopathology
Magnetic Resonance Imaging
Methionine / genetics*
Middle Aged
Prions / genetics*,  metabolism
Reg. No./Substance:
0/14-3-3 Proteins; 0/Prions; 63-68-3/Methionine; 74-79-3/Arginine

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