Roughly 40 autosomal dominant mutations of the prion protein gene (PRNP) cosegregate with familial Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, or Gerstmann-Sträussler-Scheinker disease (GSS).^1,2 Genetic prion disease in African Americans is rarely reported. We sequenced the PRNP coding segment of a 43-year-old African American woman with rapidly progressive dementia and a positive family history of early onset dementia not previously recognized as genetic prion disease.

中文翻译：

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与家族性pr病毒病相关的新型PRNP-G131R变体。

ion病毒蛋白基因（PRNP）的大约40个常染色体显性突变与家族性Creutzfeldt-Jakob病（CJD），致命性家族性失眠或Gerstmann-Sträussler-Scheinker病（GSS）共分离。^1,2非洲裔美国人遗传Genetic病毒病的报道很少。我们对患有快速进展性痴呆和早发性痴呆的家族史为阳性（以前未被认为是遗传病毒疾病）的43岁非洲裔美国妇女的PRNP编码片段进行了测序。