The effect of specific <i>SORL1</i> variants on Alzheimer’s Disease risk supports the existence of highly penetrant <i>SORL1</i> variants
Specific SORL1 variants occur only in AD cases and have an early age at onset, and some may have a dominant negative effect, independent of APOE background. Carriers of these variants might be identified by a very low level of CSF sSORLA. Such variants might be grouped with pathogenic variants in the three autosomal dominant AD genes PSEN1/2 and APP.
Authors
- Marc Hulsman (ORCID: https://orcid.org/0000-0002-9889-3606)
- Henne Holstege (ORCID: https://orcid.org/0000-0002-7688-3087)
- Sven J. van der Lee (ORCID: https://orcid.org/0000-0003-1606-8643)
- Maartje J. Vogel
- Olav M. Andersen (ORCID: https://orcid.org/0000-0003-4226-3354)
- Matthijs W. J. de Waal (ORCID: https://orcid.org/0000-0001-6746-4326)
- Niccoló Tesi (ORCID: https://orcid.org/0000-0002-1413-5091)
- Rosalina M.L. van Spaendonk
Institutions
- Aarhus University (DK)
- Amsterdam University Medical Centers (NL)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.084836
- Primary Topic
- Machine Learning in Bioinformatics
- Type
- article
- Field-Weighted Citation Impact
- 0.00