一个患有格斯特曼-施特劳斯勒-谢inker病的以色列家庭，其朊蛋白基因中存在密码子102突变。
An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.
作者信息
Goldhammer Y, Gabizon R, Meiner Z, Sadeh M
机构信息
Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
出版信息
Neurology. 1993 Dec;43(12):2718-9. doi: 10.1212/wnl.43.12.2718.
PMID:7902971
Abstract
We report the first family among the Jewish population in Israel with Gerstmann-Sträussler-Scheinker disease. A proline-for-leucine substitution at the codon 102 of the prion protein (PrP) gene was demonstrated. This mutation has been reported in families with the ataxic form of the disease.
摘要
我们报告了以色列犹太人群体中首例患有格斯特曼-施特劳斯勒-申克综合征的家族。在朊蛋白（PrP）基因的第102密码子处发现了脯氨酸替代亮氨酸的情况。这种突变已在患有共济失调型该疾病的家族中被报道。
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