一个患有格斯特曼-施特劳斯勒-谢inker综合征的意大利家族中密码子102处的朊病毒蛋白突变。
Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.
作者信息
Kretzschmar H A, Kufer P, Riethmüller G, DeArmond S, Prusiner S B, Schiffer D
机构信息
Institute of Neuropathology, University of Munich, Germany.
出版信息
Neurology. 1992 Apr;42(4):809-10. doi: 10.1212/wnl.42.4.809.
PMID:1348851
Abstract
We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.
摘要
我们报告了来自意大利的首个患有格斯特曼-施特劳斯勒-谢inker综合征（GSS）且朊蛋白基因第102密码子处脯氨酸被亮氨酸替代的家族。在一些已报道的家族中，这种突变与共济失调型GSS相关。我们这个家族的临床表现除共济失调外，还包括一些受影响家庭成员出现肌萎缩性改变。
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