患有PRNP密码子200突变的犹太患者中克雅氏病的临床异质性和不寻常表现。
Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.
作者信息
Chapman J, Brown P, Goldfarb L G, Arlazoroff A, Gajdusek D C, Korczyn A D
机构信息
Department of Neurology, Tel-Aviv Medical Center, Ichilov Hospital, Israel.
出版信息
J Neurol Neurosurg Psychiatry. 1993 Oct;56(10):1109-12. doi: 10.1136/jnnp.56.10.1109.
Abstract
The cluster of Creutzfeldt-Jakob disease among Jews of Libyan origin is the largest in the world. It was found that the disease in this ethnic group is linked to a point mutation in codon 200 of the prion protein precursor gene. In this study the clinical data from 14 such patients are described, demonstrating wide phenotypic heterogeneity. The age of onset ranged from 34 to 65 years and the duration of disease from 2 to 66 months. Clinical features included cerebral, basal ganglia, brainstem, cerebellar, and spinal cord dysfunction. Uncommon features included fatal insomnia in one patient, pruritus in another, and demyelinating peripheral neuropathy in two.
摘要
利比亚裔犹太人中克雅氏病的聚集病例是世界上最多的。研究发现，该族群中的这种疾病与朊病毒蛋白前体基因第200密码子的点突变有关。本研究描述了14例此类患者的临床数据，显示出广泛的表型异质性。发病年龄在34至65岁之间，病程为2至66个月。临床特征包括大脑、基底神经节、脑干、小脑和脊髓功能障碍。不常见的特征包括1例患者出现致命性失眠，另1例出现瘙痒，2例出现脱髓鞘性周围神经病。
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