伴有PRNP基因P102L突变及密码子129处缬氨酸的格斯特曼-施特劳斯勒-谢inker病
Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.
作者信息
Young K, Clark H B, Piccardo P, Dlouhy S R, Ghetti B
机构信息
Dept. of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis 46202, USA.
出版信息
Brain Res Mol Brain Res. 1997 Feb;44(1):147-50. doi: 10.1016/s0169-328x(96)00251-3.
The most common mutation causing Gerstmann-Sträussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.
导致格斯特曼-施特劳斯勒-谢inker综合征（GSS）的最常见突变是朊病毒蛋白中的P102L。此前，该突变仅在与第129位残基的甲硫氨酸结合时被发现。我们描述了一名患有GSS疾病的患者，其P102L突变与第129位残基的缬氨酸结合。P102L-V129的临床表现与P102-M129患者的临床表现有很大差异。
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