Furukawa H, Kitamoto T, Tanaka Y, Tateishi J
Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Brain Res Mol Brain Res. 1995 Jun;30(2):385-8. doi: 10.1016/0169-328x(95)00034-p.
We found novel variants in the open reading frame of the prion protein (PrP) gene in a family with Gerstmann-Sträussler syndrome (GSS). Codon 219Lys variant is a normal polymorphism which we found recently. Some GSS cases were identified with codon 102 mutation (proline to leucine) and codon 219Lys polymorphism. While two families had a codon 102 mutation and codon 219Lys polymorphism in different alleles, 4 patients in one family had both in the same allele. The clinicopathological features of these 4 patients were clearly different from previously reported GSS patients with codon 102 mutation. These cases should be reported as a new variant of GSS.
我们在一个患有格斯特曼-施特劳斯勒综合征（GSS）的家族中，于朊蛋白（PrP）基因的开放阅读框中发现了新的变异。密码子219赖氨酸变异是我们最近发现的一种正常多态性。一些GSS病例被鉴定出存在密码子102突变（脯氨酸变为亮氨酸）和密码子219赖氨酸多态性。有两个家族在不同等位基因中存在密码子102突变和密码子219赖氨酸多态性，而一个家族中的4名患者在同一等位基因中同时存在这两种情况。这4名患者的临床病理特征与先前报道的具有密码子102突变的GSS患者明显不同。这些病例应作为GSS的一种新变异进行报道。
