Genetic testing in dementia.

Autor: O'Connor A; Department of Neurology, Tallaght University Hospital, Dublin, Ireland aoconno6@tcd.ie.; Tallaght Institute of Memory and Cognition, Tallaght University Hospital, Dublin, Ireland., Ryan NS; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK., Belder CRS; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; The University of Adelaide, Adelaide, South Australia, Australia., Lynch DS; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and National Hospital for Neurology & Neurosurgery, London, UK., Lahiri N; St. George's, University of London & St George's University Hospitals NHS Foundation Trust, Cardiovascular and Genomics Institute, London, UK., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and National Hospital for Neurology & Neurosurgery, London, UK., Rohrer JD; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK., Fox NC; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK., O'Dowd S; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.; National Dementia Services, Health Services Executive, Ireland.
Jazyk: angličtina
Zdroj: Practical neurology [Pract Neurol] 2024 Sep 17. Date of Electronic Publication: 2024 Sep 17.
DOI: 10.1136/pn-2024-004241
Abstrakt: 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.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze: MEDLINE