实验动物传递证实密码子129甲硫氨酸纯合子Heidenhain型CreutzfeldtJakob病

　　【摘要】　目的　为观察与证实Creutzfeldt-Jakob 病 ( CJD)的特殊类型——Heidenhain变异型。方法　对1例以视觉障碍为主要症状， 并迅速发展为皮质盲的老年病人，通过脑组织活检、免疫组织化学染色、实验鼠传递以及 PrP基因表达检测等进一步证实此诊断。结果　(1) 临床症状以枕叶损伤表现和进行性痴呆为主;(2) 病程短,4个月死亡;(3) 脑电描记早期出现周期性同步放电;（4） 以朊蛋白(PrP)多克隆抗体为第一抗体的免疫组化染色,发现脑内有异常PrP,并呈突触型沉积;（5）实验鼠传递,经580 d发病,于发病鼠脑内不仅有海绵状改变,而且也发现了异常 PrP沉积;（6） PrP基因检测为密码子129甲硫氨酸纯合子型。结论　病人为典型Heidenhain型CJD。 遇有老年人迅速发生视力障碍者应想到有本病的可能，迅速进展的痴呆和肌阵挛发作可以与枕叶梗死相鉴别。

Heidenhain variant of Creutzfeldt-Jakob disease with homozygote for methionine at colon 129 for the prion protein gene was confirmed by experimental animal transmission

LIN Shihe, ZHAO jiexu, JIANG Xinmei, et al

　　Department of Neurology, The First Teaching Hospital of Norman Bethune University of Medical Sciences,Changchun 130021, China

　　【Abstract】　Objective　To investigate and identify a case with Heidenhain variant of Creutzfeldt-Jakob disease.Methods　Brain biopsy was given to an elderly patient with visual disorder of rapidly progressive cortical blindness. Immunostaining, experimental animal transmission and gene analysis were carried out.Results　 1. The clinical symptoms showed most pronounced changes in the occipital lobe and dementia; 2. Disease course was short; 3. Periodic synchronous discharge in the electroencephalogram (EEG) early appeared; 4. Abnormal PrP deposition of synaptic type was found in immunostaining; 5. Spongiform changes and abnormal PrP deposition were shown in an experimental animal transmission after patient s biopsied brain inoculation by 580 days; 6.The PrP gene analysis showed homozygote for methionine at codon 129 of the prion protein gene. Conclusion　This case was confirmed as a Heidenhain variant of Creutzfeldt-Jakob disease. In patient with acute onset of visual disorders, the differential diagnosis of a Heidenhain variant of CJD must be taken into consideration. The disease of having rapidly progressive dementia and myoclonus could be differentiated from occipital infarction.

　　【Key words】　Creutzfel

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