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

Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation

文献详情

资源类型：

WOS体系：

收录情况： ◇ SCIE

作者：

机构： [a]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [b]Department of Nuclear Medicine, Xuanwu Hospital, Capital Medical University, Beijing, China [c]Alzheimer’s Disease Research Unit, McGill Centre for Studies in Aging, Canada [d]National Clinical Research Center for Geriatric Disorders, Capital Medical University, Beijing, China

出处：

DOI：

ISSN：

关键词： De novo PSEN1 mutation diagnostic approach early-onset Alzheimer's disease early-onset dementia with negative family history

摘要：

For early-onset Alzheimer's disease (EOAD) cases with unclear family history, most cases are sporadic. Some cases are positive in genetic findings, that is, either incomplete penetrance or de novo mutation. We aimed to focus on EOAD cases with de novo mutations. Case reports and literature review were performed. The implication for diagnostic approach of early-onset dementia with negative family history was developed. We reported two Chinese EOAD cases with de novo mutations. The genotype PSEN1 G206S appeared to correlate with the phenotype of EOAD with pure cognitive problems. The second case had a PSEN1 M233V mutation with an earlier age of onset of 25 with cognitive decline, parkinsonism, and epilepsy. Although EOAD due to de novo mutations is not common, it should be considered in patients with a phenotype of progressive cognitive decline and amyloid positivity on PET or CSF analysis.

基金：

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2018]版：

大类 | 2 区医学

小类 | 3 区神经科学

最新[2025]版：

大类 | 3 区医学

小类 | 3 区神经科学

JCR分区：

出版当年[2017]版：

Q2 NEUROSCIENCES

最新[2023]版：

Q2 NEUROSCIENCES

影响因子： 3.4 最新[2023版] 4.2 最新五年平均 3.476 出版当年[2017版] 3.792 出版当年五年平均 3.731 出版前一年[2016版] 3.517 出版后一年[2018版]

第一作者：

第一作者机构： [a]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [*1]Department of Neurology, Xuanwu hospital, Capital Medical University, Changchun Street 45, Beijing 100053, China.

共同第一作者：

通讯作者：

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

推荐引用方式(GB/T 7714)：

APA：

MLA：

相关文献

[1]Early-Onset Familial Alzheimer's Disease (EOFAD) [2]CHINESE EARLY-ONSET FAMILIAL ALZHEIMER'S DISEASE [3]CHINESE EARLY-ONSET FAMILIAL ALZHEIMER'S DISEASE [4]The genetic landscape of early-onset Alzheimer's disease in China [5]Screening of Human Circular RNAs as Biomarkers for Early Onset Detection of Alzheimer's Disease [6]The identification of PSEN1 p.Tyr159Ser mutation in a non-canonic early-onset Alzheimer's disease family. [7]Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease. [8]Capgras Syndrome as the Core Manifestation of Early-Onset Alzheimer's Disease. [9]A NOVEL APP MUTATION IN EARLY-ONSET ALZHEIMER'S DISEASE WITH PROMINENT BEHAVIOURAL AND PSYCHOLOGICAL SYMPTOMS [10]Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization.