Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic
We found that patients who visit a memory clinic and carry a pathogenic genetic variant are often not eligible for genetic testing. The proposed new criteria improve the identification of patients with a genetic cause for their cognitive complaints. In systems without practical or financial barriers to genetic testing, the new criteria can enhance personalized care. In other countries where the health care systems differs and in other genetic ancestry groups, the performance of the criteria may be different.
Authors
- Marc Hulsman (ORCID: https://orcid.org/0000-0002-9889-3606)
- Rosalina van Spaendonk
- Itziar de Rojas (ORCID: https://orcid.org/0000-0002-2148-381X)
- Wiesje M. van der Flier (ORCID: https://orcid.org/0000-0001-8766-6224)
- Mieke M. van Haelst (ORCID: https://orcid.org/0000-0001-7126-2030)
- Mariet W. Elting (ORCID: https://orcid.org/0000-0002-0119-6928)
- Henne Holstege (ORCID: https://orcid.org/0000-0002-7688-3087)
- Fred van Ruissen (ORCID: https://orcid.org/0000-0002-9458-7505)
- Marcel Reinders (ORCID: https://orcid.org/0000-0002-1148-1562)
- Corien C. Verschuuren‐Bemelmans
- Sven J. van der Lee (ORCID: https://orcid.org/0000-0003-1606-8643)
- Christa de Geus
- Janna I.R. Dijkstra (ORCID: https://orcid.org/0000-0003-3673-2513)
- Jetske van der Schaar (ORCID: https://orcid.org/0000-0002-9155-7490)
- Yolande A.L. Pijnenburg (ORCID: https://orcid.org/0000-0003-2464-1905)
- Niccoló Tesi (ORCID: https://orcid.org/0000-0002-1413-5091)
Institutions
- University Medical Center Groningen (NL)
- University of Groningen (NL)
- Instituto de Salud Carlos III (ES)
- Biomedical Research Networking Center on Neurodegenerative Diseases (ES)
- Center for Personalized Cancer Treatment (NL)
- Amsterdam Neuroscience (NL)
- Fundació ACE (ES)
- Amsterdam University Medical Centers (NL)
- Vrije Universiteit Amsterdam (NL)
- University of Amsterdam (NL)
- Delft University of Technology (NL)
Publication Details
- Journal
- Neurology
- Published
- 2025-01-27
- DOI
- https://doi.org/10.1212/wnl.0000000000210273
- Citations
- 6
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 9.09