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

IF 1 Q4 GENETICS & HEREDITY
Shinsuke Hamada, Ikuko Takahashi-Iwata, Katsuya Satoh, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Fumio Moriwaka, Ichiro Yabe
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引用次数: 1

Abstract

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.

Abstract Image

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。
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。
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来源期刊
Human Genome Variation
Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
13 weeks
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