Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.
Matthijs W. J. de Waal, Sven J. van der Lee, Melanie Lunding, Lynn Boonkamp, Nolan Barrett, Giulia Monti, Anne Mette G. Jensen, Christian Bjerggaard Vægter, Jan Raška, Sona Cesnarikova, Jiří Sedmík, Calvin Trieu, Marjan M. Weiss, Rosalina M.L. van Spaendonk, Lisa Vermunt, , Henne H. Holstege
The paper measures soluble SORL1 (sSORL1) in CSF to assess functional impact of rare SORL1 variants, finding lower sSORL1 in carriers of pathogenic variants.
Alzheimer s & Dementia · Feb 1, 2026Peer-reviewedNeuroscience