Genetics in vascular dementia

IF 0.6 Q4 CLINICAL NEUROLOGY
R. Manso-Calderón
{"title":"Genetics in vascular dementia","authors":"R. Manso-Calderón","doi":"10.2217/FNL-2018-0027","DOIUrl":null,"url":null,"abstract":"Vascular dementia (VaD) is a common disorder that encompasses heterogeneous entities, which creates challenges in order to reach a global consensus for diagnostic criteria. While the genetic basis for sporadic VaD remains poorly understood, the identification of causal genes in monogenic forms of VaD sheds light on the pathophysiological mechanisms of VaD. This special report describes progress in genetic research on monogenic and sporadic VaD, as well as on associated phenotypes, such as cerebral small vessel disease, stroke and Alzheimer's disease. Methodological issues (e.g., small-size studies) and strategies to overcome these problems (e.g., collaborative consortiums, endophenotypes) are discussed. Lastly, future perspectives in the field and how such work could benefit patients and clinicians are mentioned.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":" ","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2019-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/FNL-2018-0027","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Future Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/FNL-2018-0027","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 3

Abstract

Vascular dementia (VaD) is a common disorder that encompasses heterogeneous entities, which creates challenges in order to reach a global consensus for diagnostic criteria. While the genetic basis for sporadic VaD remains poorly understood, the identification of causal genes in monogenic forms of VaD sheds light on the pathophysiological mechanisms of VaD. This special report describes progress in genetic research on monogenic and sporadic VaD, as well as on associated phenotypes, such as cerebral small vessel disease, stroke and Alzheimer's disease. Methodological issues (e.g., small-size studies) and strategies to overcome these problems (e.g., collaborative consortiums, endophenotypes) are discussed. Lastly, future perspectives in the field and how such work could benefit patients and clinicians are mentioned.
血管性痴呆的遗传学
血管性痴呆(VaD)是一种常见的疾病,包括异质性实体,这给在诊断标准上达成全球共识带来了挑战。虽然对散发性VaD的遗传基础仍知之甚少,但对单基因形式的VaD致病基因的鉴定揭示了VaD的病理生理机制。这份特别报告描述了单基因和散发性VaD的遗传学研究进展,以及相关表型,如脑小血管疾病、中风和阿尔茨海默病。讨论了方法论问题(如小型研究)和克服这些问题的战略(如合作联盟、内表型)。最后,提到了该领域的未来前景,以及这项工作如何使患者和临床医生受益。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Future Neurology
Future Neurology CLINICAL NEUROLOGY-
CiteScore
2.10
自引率
0.00%
发文量
10
期刊介绍: The neurological landscape is changing rapidly. From the technological perspective, advanced molecular approaches and imaging modalities have greatly increased our understanding of neurological disease, with enhanced prospects for effective treatments in common but very serious disorders such as stroke, epilepsy, multiple sclerosis and Parkinson’s disease. Nevertheless, at the same time, the healthcare community is increasingly challenged by the rise in neurodegenerative diseases consequent upon demographic changes in developed countries.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信