Heldt N, Boellaard J W, Brown P, Cervenákova L, Doerr-Schott J, Thomas C, Scherer C, Rohmer F
Service d'Anatomie Pathologique Générale, Hôpital de Hautepierre, Strasbourg, France.
Clin Neuropathol. 1998 Jul-Aug;17(4):229-34.
We report a kindred of French/Alsatian origin with symptoms of Gerstmann-Sträussler-Scheinker disease over 3 generations. In the propositus, cerebellar signs and memory disturbance were the presenting features, followed by other neurological manifestations. Biopsy of the cerebral cortex showed numerous multicentric and "kuru"-type amyloid plaques that on immuno-light and electron microscopy stained with antibody to prion protein. Molecular genetic analysis revealed an A117V mutation in the open reading frame of the prion protein gene. Questions as to pathology and spread of this mutation are discussed.
我们报告了一个起源于法国/阿尔萨斯的家族，三代人都出现了格斯特曼-施特劳斯勒-申克病的症状。在该先证者中，小脑体征和记忆障碍是主要表现，随后出现了其他神经学表现。大脑皮质活检显示有许多多中心的“库鲁”型淀粉样斑块，在免疫荧光和电子显微镜下用朊病毒蛋白抗体染色。分子遗传学分析显示朊病毒蛋白基因的开放阅读框中有一个A117V突变。本文讨论了该突变的病理学及传播问题。
