Gerstmann—Strussler综合征——一个家系两代5例临床、病理、免疫组化及动物接种传递的实验研究

Gerstmann-Strussler syndrome, Neuropathological immunohistochemical and transmission studies on a family

经过连续4年观察,发现和证实一个家系两代5例Gerstmann—strāussler综合征。发病年龄17～26岁。首发症状为小脑性共济失调,伴下肢肌萎缩。CT示小脑萎缩。4例发病后4～17年死亡。经小脑活体组织检查、免疫组织化学染色及实验室内动物传递等研究,证明国内确有此病,应予注意。

A family, 2 generations, and 5 patients with Gerstmann-Straussler syndrome were confirmed by 4 years' follow-up and pathological studies. The ages of onset ranged from 17 to 26 years. All of them had severe cerebellar ataxia, mild dementia and muscular atrophy of lower extremities. CT scan showed cerebellar atrophy, Four of them in 4 to 17 years after onset died. The diagnosis of Gerstmann-Straussler syndrome were Confirmed by cerebellar biopsy, immunohistochemical stain of PrP and animal transmission.