详情页 - 首都医科大学宣武医院知识库

当前位置：首页 > 详情页

Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia

82| 认领 | 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [2]Sichuan Provincial Center for Mental Health, Sichuan Academy of Medical Science & Sichuan Provincial People's Hospital, Chengdu, China [3]Department of Neurology, Rongcheng People's Hospital, Hebei, China

出处：

DOI：

ISSN：

关键词： Alzheimer's disease frontotemporal dementia octapeptide repeat prion protein gene PRNP

摘要：

Studies focusing on octapeptide repeat alteration mutations in PRNP in Alzheimer's disease (AD) and frontotemporal dementia (FTD) cohorts have been rare. We aim to screen sporadic AD and FTD patients with unknown etiology for the octapeptide repeat insertions and deletions in PRNP. Two hundred and six individuals were screened for alterations to the repeat region in the PRNP gene, including 146 sporadic AD and 60 sporadic FTD patients. Our study showed a 1.5% (3/206) occurrence of the octapeptide repeat alteration mutations in PRNP in a Chinese cohort of sporadic dementia. One late-onset FTD patient and one early-onset AD patient each had a two-octapeptide repeat deletion in PRNP, while one early-onset AD patient had a five-octapeptide repeat insertion mutation. PRNP octapeptide repeat alteration mutations are present in sporadic AD and FTD patients. The genetic investigation for PRNP octapeptide repeat alteration mutations in sporadic dementia patients should be carried out in future clinical studies.

基金：

基金编号： no. 82201573

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2022]版：

大类 | 2 区医学

小类 | 2 区遗传学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区遗传学

JCR分区：

出版当年[2021]版：

Q2 GENETICS & HEREDITY

最新[2023]版：

Q2 GENETICS & HEREDITY

影响因子： 2.9 最新[2023版] 3.5 最新五年平均 4.296 出版当年[2021版] 4.423 出版当年五年平均 4.438 出版前一年[2020版] 3.5 出版后一年[2022版]

第一作者：

第一作者机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China

通讯作者：

通讯机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [*1]Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Beijing 100053, China.

推荐引用方式(GB/T 7714)：

APA：

MLA：

相关文献

[1]Amino Acid Substitution within Seven-Octapeptide Repeat Insertions in the Prion Protein Gene Associated with Short-Term Course [2]Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge [3]162例散发性阿尔茨海默病朊蛋白基因突变的研究 [4]Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism. [5]The Preliminary Application in Differential Alzheimer's Disease and Frontotemporal Dementia Using F-18-FDG SPECT [6]180例散发性神经变性病引起的痴呆朊蛋白基因突变的研究 [7]遗传性朊蛋白病一家系的临床、病理和基因突变分析 [8]Correction: Regional Glymphatic Abnormality in Behavioral Variant Frontotemporal Dementia [9]Regional glymphatic abnormality in behavioral variant frontotemporal dementia [10]额叶变异型阿尔茨海默病的临床和影像学特征一例