带有5-八肽重复序列的遗传性克雅氏病表现为额颞叶痴呆症。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-03-29 DOI:10.1038/s41439-023-00237-w

Shinsuke Hamada, Ikuko Takahashi-Iwata, Katsuya Satoh, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Fumio Moriwaka, Ichiro Yabe

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引用次数: 1

摘要

PRNP基因的N端通常包含一个5-八肽重复序列（R1-R2-R2-R3-R4），该基因座的插入可导致遗传性朊病毒疾病。在本研究中，我们在一个额颞叶痴呆症同胞病例中发现了5-八肽重复插入（5-OPRI）。与之前的文献一致，5-OPRI 很少符合克雅氏病（CJD）的诊断标准。我们建议将 5-OPRI 作为早发性痴呆症（尤其是额颞叶痴呆症）的疑似致病基因突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.

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Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks