Tateishi J, Kitamoto T, Hoque M Z, Furukawa H
Department of Neuropathology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Neurology. 1996 Feb;46(2):532-7. doi: 10.1212/wnl.46.2.532.
Sporadic Creutzfeldt-Jakob disease (CJD) with 129M/M, and iatrogenic and familial CJD with E200K and M232R, showed similar clinicopathologic features, a synaptic type deposition of PrPCJD, and high transmission frequencies to mice. Sporadic patients with 129M/V or 129V/V, and mutation cases with V180I, showed slightly different features and low or null transmission frequencies to mice. Hereditary cases with P102L, P105L, A117V, Y145stop, and insertions had different features but all demonstrated a long clinical duration and the presence of PrP plaques. The experimental transmission to mice of these mutant forms was difficult, except for one-third of the cases with P102L. CJD and related diseases, even those that are hereditary, may thus be divided into two different groups, those that are easily transmissible and those that are either difficult to transmit or nontransmissible.
具有129M/M的散发性克雅氏病(CJD),以及具有E200K和M232R的医源性和家族性CJD,表现出相似的临床病理特征、PrPCJD的突触型沉积以及对小鼠的高传播频率。具有129M/V或129V/V的散发性患者,以及具有V180I的突变病例,表现出略有不同的特征,对小鼠的传播频率低或为零。具有P102L、P105L、A117V、Y145stop和插入突变的遗传性病例具有不同的特征,但均表现出较长的临床病程和PrP斑块的存在。除了三分之一的P102L病例外,这些突变形式向小鼠的实验性传播都很困难。因此,CJD及相关疾病,即使是遗传性疾病,也可分为两个不同的组,即易于传播的组和难以传播或不可传播的组。