Kitamoto T
Department of Neuropathology, Kyushu University.
Rinsho Shinkeigaku. 1994 Dec;34(12):1222-3.
Recent molecular genetic studies revealed that human prion protein (PrP) gene has a large repertoire of polymorphisms and mutations. Each variant PrP seems to correspond to the distinct type of prion diseases. We report herein that it is useful to classify prion diseases into Creutzfeldt-Jakob disease (CJD) type or Gerstmann-Sträussler syndrome (GSS) type, based on the distribution of PrP in the central nervous system. The variant PrP including codon 102, codon 105, codon 129, codon 145 and insertional mutations belong to the GSS type, while the wild type PrP and the variants including codon 180, codon 200, codon 210, and codon 232 mutations belong to the CJD type. The CJD type prion diseases showed a rapidly progressive dementia, myoclonus, and periodic synchronous discharges in the electroencephalogram, and showed diffuse gray matter PrP accumulations including the synaptic structures in the pathological findings. The GSS type prion diseases showed a long clinical course without myoclonus and periodic synchronous discharges, and the major PrP accumulation sites were extracellular PrP plaques. The distribution of PrP deposit in the central nervous system influences the clinical and pathological aspects of prion diseases.
最近的分子遗传学研究表明，人类朊病毒蛋白（PrP）基因存在大量的多态性和突变。每种变异型PrP似乎都对应着不同类型的朊病毒疾病。我们在此报告，根据PrP在中枢神经系统中的分布情况，将朊病毒疾病分为克雅氏病（CJD）型或格斯特曼-施特劳斯勒综合征（GSS）型是有用的。包括密码子102、密码子105、密码子129、密码子145和插入突变在内的变异型PrP属于GSS型，而野生型PrP以及包括密码子180、密码子200、密码子210和密码子232突变在内的变异型属于CJD型。CJD型朊病毒疾病表现为快速进展性痴呆、肌阵挛以及脑电图中的周期性同步放电，并且在病理检查中显示出包括突触结构在内的弥漫性灰质PrP积聚。GSS型朊病毒疾病临床病程较长，无肌阵挛和周期性同步放电，主要的PrP积聚部位是细胞外PrP斑块。PrP在中枢神经系统中的沉积分布影响着朊病毒疾病的临床和病理表现。
