Barbanti P, Fabbrini G, Salvatore M, Petraroli R, Cardone F, Maras B, Equestre M, Macchi G, Lenzi G L, Pocchiari M
Department of Neurological Sciences, Università di Roma "La Sapienza,", Italy.
Neurology. 1996 Sep;47(3):734-41. doi: 10.1212/wnl.47.3.734.
We present a new, large, Italian family affected by Gerstmann-Sträussler-Scheinker syndrome (GSS) associated with the Pro to Leu point mutation at codon 102 of the prion protein gene (PRNP). The affected members of this family show a remarkable phenotypic variability of the disease: three of them had a clinical picture characterized by dementia and a brief illness duration (less than 1 year), while the other five members presented an ataxic, slowly evolving syndrome (a clinical duration of 3 to 4 years) with no evidence of cognitive impairment. Despite these remarkable clinical differences among affected members, we found no correlation between the clinical presentation and the codon 129 or codon 219 genotypes. These data suggest that factors as yet unidentified may influence the clinical expression of the disease.
我们报告了一个新的、规模较大的意大利家族，该家族受格斯特曼-施特劳斯勒-谢inker综合征（GSS）影响，与朊蛋白基因（PRNP）第102密码子的脯氨酸到亮氨酸点突变相关。这个家族的患病成员表现出该疾病显著的表型变异性：其中三人临床表现为痴呆且病程短暂（不到1年），而其他五名成员呈现共济失调、缓慢进展的综合征（临床病程为3至4年），无认知障碍证据。尽管患病成员之间存在这些显著的临床差异，但我们未发现临床表现与第129密码子或第219密码子基因型之间存在相关性。这些数据表明，尚未明确的因素可能会影响该疾病的临床表达。
