Prospective 10-year surveillance of human prion diseases in Japan

摘要: We analysed the epidemiological data and clinical features of patients with prion diseases that had been registered by Creutzfeldt-Jakob Disease Surveillance Committee, Japan, over past 10 years, since 1999. obtained information on 1685 Japanese suspected as having judged 1222 diseases, consisting definite (n=180, 14.7%) probable (n=1029, 84.2%) cases, except for dura mater graft-associated disease which also included possible cases (n=13, 1.1%). They were classified into 922 (75.5%) sporadic disease, 216 (17.7%) genetic 81 (6.6%) acquired including 80 one case variant three unclassified (0.2%). The annual incidence rate ranged from 0.65 in 1999 to 1.10 2006, an average 0.85, similar European countries. Although methionine homozygosity at codon 129 polymorphism protein gene was reported be very common (93%) general population, Japan significantly associated (97.5%), western In MM1 type (Parchi's classification) is most common, Among atypical MM2 appeared probably related high proportion allele population. As iatrogenic only and, combined previous surveillance systems, total number 138, comprising majority worldwide patients. Regarding mutation V180I (41.2%), followed P102L (18.1%), E200K (17.1%) M232R (15.3%), this distribution quite different Europe. particular, rare mutations worldwide. Patients or rarely a family history indicating test necessary distinguish these disease. conclusion, our prospective 10-year revealed frequent occurrence unique phenotypes characteristic polymorphisms compared those