Tranchant C, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter J M
Service de Neurologie II, CHU de Strasbourg, France.
Rev Neurol (Paris). 1991;147(4):274-8.
We report the clinical progression of the Gerstmann-Sträussler-Scheinker disease (GSS) in a family of Alsatian origin. The age of onset and duration of evolution were variable. The clinical picture became more complex over the generations: isolated dementia in the first generations, then, more recently, a triad of pyramidal, pseudobulbar syndrome and dementia associated with symptoms indicating spread of damage to the spinal cord and cerebellum. Study of the prion gene showed that in all patients analyzed and in 10 healthy family members, there is a double mutation of codon 117 leading to loss of the restriction site PvuII and to the replacement of an alanine by a valine. We did not find the mutation of codon 102 reported in 5 GSS families. The role of these mutations in the pathogenesis of the disease is unclear: marker for a particular susceptibility to the encephalopathies due to the prion, or direct role in the disease? Further study of the family, particularly the healthy carriers, could suggest the answer. GSS seems to be an especially useful model for the study of the role of a foreign abnormal protein in the synthesis and regulation of host proteins.
我们报告了一个阿尔萨斯血统家族中格斯特曼-施特劳斯勒-谢inker病（GSS）的临床进展情况。发病年龄和病程长短不一。几代人的临床表现变得更加复杂：第一代仅有痴呆，而最近出现了锥体束征、假性延髓综合征和痴呆三联征，并伴有提示脊髓和小脑损害扩散的症状。对朊病毒基因的研究表明，在所有分析的患者以及10名健康家庭成员中，存在密码子117的双重突变，导致限制性酶切位点PvuII缺失，丙氨酸被缬氨酸取代。我们未发现5个GSS家族中报道的密码子102突变。这些突变在疾病发病机制中的作用尚不清楚：它是对朊病毒所致脑病具有特殊易感性的标志物，还是在疾病中起直接作用？对该家族，尤其是健康携带者的进一步研究可能会给出答案。GSS似乎是研究外来异常蛋白在宿主蛋白合成和调控中作用的一个特别有用的模型。
