具有5个八肽重复序列的遗传性克雅氏病表现为额颞叶痴呆。
Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.
作者信息
Hamada Shinsuke, Takahashi-Iwata Ikuko, Satoh Katsuya, Kitamoto Tetsuyuki, Mizusawa Hidehiro, Moriwaka Fumio, Yabe Ichiro
机构信息
Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Hokkaido Neurology Hospital, Sapporo, Japan.
出版信息
Hum Genome Var. 2023 Mar 29;10(1):10. doi: 10.1038/s41439-023-00237-w.
The N-terminus of the PRNP gene normally contains a 5-octapeptide repeat (R1-R2-R2-R3-R4), and insertions at this locus can cause hereditary prion diseases. In the present study, we found a 5-octapeptide repeat insertion (5-OPRI) in a sibling case of frontotemporal dementia. Consistent with previous literature, 5-OPRI rarely met the diagnostic criteria for Creutzfeldt‒Jakob disease (CJD). We propose 5-OPRI as a suspected causative mutation for early-onset dementia, especially the frontotemporal type.
PRNP基因的N端通常包含一个5个八肽的重复序列（R1-R2-R2-R3-R4），该位点的插入可导致遗传性朊病毒病。在本研究中，我们在一例额颞叶痴呆的同胞病例中发现了一个5个八肽的重复序列插入（5-OPRI）。与先前的文献一致，5-OPRI很少符合克雅氏病（CJD）的诊断标准。我们提出5-OPRI作为早发性痴呆尤其是额颞叶型痴呆的可疑致病突变。
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