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伴PSEN2基因V214L突变的早发型阿尔茨海默病一家系临床研究

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伴PSEN2基因V214L突变的早发型阿尔茨海默病一家系临床研究

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_wanfang_journals_xdsjjbzz202304016

伴PSEN2基因V214L突变的早发型阿尔茨海默病一家系临床研究

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Full title

伴PSEN2基因V214L突变的早发型阿尔茨海默病一家系临床研究

Author / Creator

蔡洪钱 , 张安妮 , 徐子茜 , 龚慧蓝 , 曾红梅 and 贺电

Publisher

550004 贵阳,贵州医科大学附属医院神经内科

Journal title

中国现代神经疾病杂志, 2023-04, Vol.23 (4), p.335-340

Language

Chinese

Formats

Articles

Publication information

Publisher

550004 贵阳,贵州医科大学附属医院神经内科

More information

Scope and Contents

Contents

目的 报道1例伴PSEN2基因V214L突变的早发型阿尔茨海默病患者的临床表型和基因变异特点,并进行家系分析.方法 与结果 男性先证者,58岁发病,病程5年,以记忆力减退为首发表现,症状进行性加重,无痴呆家族史.简易智能状态检查量表评分1分,蒙特利尔认知评价量表评分为零,日常生活活动能力量表评分71分,Hachinski缺血评分3分.头部MRI显示大脑皮质广泛萎缩,以双侧海马萎缩显著,深部脑白质多发高信号(Fazekas分级2级).痴呆相关基因外显子高通量测序显示,先证者及其妹均存在PSEN2基因第8号外显子c.640G＞T(p.V214L)杂合错义突变和SORL1基因第28号外显子c.3815-4A＞C杂合剪接突变.先证者最终诊断为伴PSEN2基因V214L突变的早发型阿尔茨海默病,其妹考...

Alternative Titles

Full title

伴PSEN2基因V214L突变的早发型阿尔茨海默病一家系临床研究

Authors, Artists and Contributors

Author / Creator

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Primary Identifiers

Record Identifier

TN_cdi_wanfang_journals_xdsjjbzz202304016

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_wanfang_journals_xdsjjbzz202304016

Other Identifiers

ISSN

1672-6731

DOI

10.3969/j.issn.1672-6731.2023.04.010

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