Department of Neurology, Pitié-Salpêtrière Hospital, APHP, Paris, France.
Department of Neurology, Pitié-Salpêtrière Hospital, APHP, Paris, France.
Cortex. 2019 Aug;117:407-413. doi: 10.1016/j.cortex.2018.08.014. Epub 2018 Sep 1.
Genetic Creutzfeldt-Jakob disease is due to mutations in the PRNP gene. Only two families with a PRNP G114V mutation have been described around the world. We report the first European case, who had no family history and initially presented with isolated deficit in hippocampus-dependent memory. Initial investigations were normal except for elevated total tau protein in the cerebrospinal fluid. He died 4 years after disease onset. This case highlights the diagnostic difficulties posed by genetic Creutzfeldt-Jakob disease, and shows that genetic analyses should be considered even in sporadic cases.
遗传性克雅氏病是由 PRNP 基因突变引起的。全世界仅有两家族被描述携带 PRNP G114V 突变。我们报告首例欧洲病例，该患者无家族史，最初表现为孤立的海马体依赖记忆缺陷。初始检查除脑脊液中总tau 蛋白升高外均正常。他在发病后 4 年内死亡。该病例突出了遗传性克雅氏病带来的诊断困难，并表明即使在散发性病例中也应考虑进行基因分析。
