Kovács G G, László L, Bakos A, Minárovits J, Bishop M T, Ströbel T, Vajna B, Mitrova E, Majtényi K
National Institute of Psychiatry and Neurology, Hungarian Reference Centre for Human Prion Disease, Budapest, Hungary.
Neurology. 2005 Nov 22;65(10):1666-9. doi: 10.1212/01.wnl.0000184513.95290.80.
The authors performed analysis of the prion protein gene (PRNP) in 27 out of 109 confirmed prion disease patients between 1994 and 2004. E200K mutation was found in 17 cases. Another 10 patients, lacking PRNP analysis, showed positive family history. The mean annual incidence (0.27/million) and proportion (25.6%) of genetic prion disease is unusually high in Hungary and might be related to the migration of ancestors from the Slovakian focus.
作者在1994年至2004年间对109例确诊的朊病毒病患者中的27例进行了朊病毒蛋白基因(PRNP)分析。在17例患者中发现了E200K突变。另外10例未进行PRNP分析的患者有阳性家族史。匈牙利遗传性朊病毒病的年平均发病率(0.27/百万)和比例(25.6%)异常高,这可能与祖先从斯洛伐克疫源地的迁移有关。