痴呆症基因检测

IF 2.4 Q2 CLINICAL NEUROLOGY

PRACTICAL NEUROLOGY Pub Date : 2024-09-17 DOI:10.1136/pn-2024-004241

Antoinette O'Connor, Natalie S Ryan, Christopher R S Belder, David S Lynch, Nayana Lahiri, Henry Houlden, Jonathan D Rohrer, Nick C Fox, Sean O'Dowd

{"title":"痴呆症基因检测","authors":"Antoinette O'Connor, Natalie S Ryan, Christopher R S Belder, David S Lynch, Nayana Lahiri, Henry Houlden, Jonathan D Rohrer, Nick C Fox, Sean O'Dowd","doi":"10.1136/pn-2024-004241","DOIUrl":null,"url":null,"abstract":"There is growing public awareness and concern regarding dementia risk. In addition, genetic testing is increasingly accessible and is at the point of being integrated into routine clinical practice. As a result, there is a pressing need for treating clinicians to have the appropriate knowledge base to request and consent for diagnostic genetic testing in cognitive clinics. We outline our approach to genetic testing in patients with Alzheimer’s disease, frontotemporal dementia, dementia with Lewy bodies and vascular cognitive impairment. We discuss when to consider testing, the consenting process, and the interpretation and communication of genetic test results. No data are available.","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"52 1","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic testing in dementia\",\"authors\":\"Antoinette O'Connor, Natalie S Ryan, Christopher R S Belder, David S Lynch, Nayana Lahiri, Henry Houlden, Jonathan D Rohrer, Nick C Fox, Sean O'Dowd\",\"doi\":\"10.1136/pn-2024-004241\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"There is growing public awareness and concern regarding dementia risk. In addition, genetic testing is increasingly accessible and is at the point of being integrated into routine clinical practice. As a result, there is a pressing need for treating clinicians to have the appropriate knowledge base to request and consent for diagnostic genetic testing in cognitive clinics. We outline our approach to genetic testing in patients with Alzheimer’s disease, frontotemporal dementia, dementia with Lewy bodies and vascular cognitive impairment. We discuss when to consider testing, the consenting process, and the interpretation and communication of genetic test results. No data are available.\",\"PeriodicalId\":39343,\"journal\":{\"name\":\"PRACTICAL NEUROLOGY\",\"volume\":\"52 1\",\"pages\":\"\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-09-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PRACTICAL NEUROLOGY\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/pn-2024-004241\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PRACTICAL NEUROLOGY","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/pn-2024-004241","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

公众对痴呆症风险的认识和关注与日俱增。此外，基因检测也越来越容易获得，并且正处于融入常规临床实践的阶段。因此，临床医生迫切需要具备相应的知识基础，以便在认知诊所申请并同意进行诊断性基因检测。我们概述了对阿尔茨海默病、额颞叶痴呆症、路易体痴呆症和血管性认知障碍患者进行基因检测的方法。我们讨论了何时考虑进行检测、同意过程以及基因检测结果的解释和交流。暂无数据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Genetic testing in dementia

There is growing public awareness and concern regarding dementia risk. In addition, genetic testing is increasingly accessible and is at the point of being integrated into routine clinical practice. As a result, there is a pressing need for treating clinicians to have the appropriate knowledge base to request and consent for diagnostic genetic testing in cognitive clinics. We outline our approach to genetic testing in patients with Alzheimer’s disease, frontotemporal dementia, dementia with Lewy bodies and vascular cognitive impairment. We discuss when to consider testing, the consenting process, and the interpretation and communication of genetic test results. No data are available.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

PRACTICAL NEUROLOGY Medicine-Neurology (clinical)

CiteScore

3.70

自引率

3.60%

发文量

113

期刊介绍： The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.