Young K, Jones C K, Piccardo P, Lazzarini A, Golbe L I, Zimmerman T R, Dickson D W, McLachlan D C, St George-Hyslop P, Lennox A
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.
Neurology. 1995 Jun;45(6):1127-34. doi: 10.1212/wnl.45.6.1127.
We present two patients with Gerstmann-Sträussler-Scheinker disease (GSS), one from a previously undescribed kindred and one from the Canadian branch of a previously reported British kindred. In both patients, GSS is caused by a substitution of thymine for cytosine at codon 102 of the prion protein gene (PRNP). In each patient, we confirmed the clinical diagnosis by neuropathologic examination. The mutation, causing a substitution of leucine for proline at residue 102 (P102L) of the prion protein, has been previously reported in at least 30 other families. In the patients described here, the mutation was in coupling with methionine at PRNP codon 129.
我们报告了两名患有格斯特曼-施特劳斯勒-谢inker病（GSS）的患者，一名来自一个此前未被描述的家族，另一名来自一个此前报道的英国家族的加拿大分支。在这两名患者中，GSS均由朊病毒蛋白基因（PRNP）第102密码子处的胞嘧啶被胸腺嘧啶替代所致。在每名患者中，我们通过神经病理学检查证实了临床诊断。这种导致朊病毒蛋白第102位残基（P102L）处的脯氨酸被亮氨酸替代的突变，此前已在至少30个其他家族中报道过。在此描述的患者中，该突变与PRNP密码子129处的甲硫氨酸呈连锁状态。
