一个匈牙利家族中出现的家族性朊病毒病，其朊病毒蛋白基因存在一个新的144碱基对插入。
Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein gene.
作者信息
Kovács T, Beck J A, Papp M I, Lantos P L, Arányi Z, Szirmai I G, Farsang M, Stuke A, Csillik A, Collinge J
机构信息
Department of Neurology, Semmelweis University, Budapest, Balassa u. 6., H-1083 Hungary.
出版信息
J Neurol Neurosurg Psychiatry. 2007 Mar;78(3):321-3. doi: 10.1136/jnnp.2006.104372.
Abstract
About 15% of human prion diseases are inherited, and are associated with point or insertional mutations of the prion protein gene (PRNP). Four families with six octapeptide repeat insertions (OPRI) in the PRNP gene have been described in the literature so far. Here we report two cases in a Hungarian family with a new six OPRI (R1R2R2R3R2R3gR3R2R2R3R4) in the PRNP gene. The clinical features (progressive ataxia, dementia and anosmia), the age of onset and the duration of disease were almost identical. In addition to the cerebellar and parahippocampal pathological changes already described, we also found deposits of pathological prion protein in the olfactory system.
摘要
约15%的人类朊病毒疾病是遗传性的，与朊病毒蛋白基因（PRNP）的点突变或插入突变有关。迄今为止，文献中已描述了4个在PRNP基因中有6个八肽重复插入（OPRI）的家族。在此，我们报告匈牙利一个家族中的2例病例，其PRNP基因中有新的6个OPRI（R1R2R2R3R2R3gR3R2R2R3R4）。临床特征（进行性共济失调、痴呆和嗅觉丧失）、发病年龄和病程几乎相同。除了已描述的小脑和海马旁回病理变化外，我们还在嗅觉系统中发现了病理性朊病毒蛋白沉积。
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