A novel phenotype of sporadic Creutzfeldt-Jakob disease
A novel phenotype of sporadic Creutzfeldt-Jakob disease
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DOI：
10.1136/jnnp.2007.115444
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发表时间：
2007-12-01
影响因子：
11
通讯作者：
Tagliavini, F.
中科院分区：
文献类型：
--
作者：
Giaccone, G.;Di Fede, G.;Tagliavini, F.
本文报告一例散发性克雅氏病(CJD)的非典型病例，患者为78岁，PrP基因129位密码子甲硫氨酸纯合子。神经病理学特征是大脑皮质、纹状体和丘脑出现PrP免疫反应斑块样沉积。Western印迹分析显示，PrP(PrPSc)的病理形式在散发性CJD中以前未被识别，其特点是缺乏二糖化的蛋白酶抗性物种。这些特征定义了一种新的神经病理和分子CJD表型。
An atypical case of sporadic Creutzfeldt-Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus. Western blot analysis showed a profile of the pathological form of PrP (PrPSc) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.