Gerstmann‐Struassler‐Scheinker disease is one of the familial prion diseases secondary to mutations in the prion protein gene (PRNP). The clinical phenotype has a diverse spectrum and might show variation among cases with the same genotype. We report a patient with G131V mutation in the PRNP gene, who was initially considered to harbor familial Alzheimer’s disease, based on the family history, clinical presentation and imaging findings.

中文翻译：

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一种与 G131V PRNP 突变相关的不寻常家族性痴呆

Gerstmann-Struassler-Scheinker 病是继发于朊病毒蛋白基因 ( PRNP )突变的家族性朊病毒病之一。临床表型具有不同的谱系，并且可能在具有相同基因型的病例之间表现出差异。我们报告了一名PRNP基因G131V 突变的患者，根据家族史、临床表现和影像学发现，该患者最初被认为患有家族性阿尔茨海默病。