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Practical neurology
Published

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

Abstract

Pract Neurol. 2024 Sep 17:pn-2024-004241. doi: 10.1136/pn-2024-004241. Online ahead of print.

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.

PMID:39288984 | DOI:10.1136/pn-2024-004241