Matthijs W. J. de Waal

The paper measures soluble SORL1 (sSORL1) in CSF to assess functional impact of rare SORL1 variants, finding lower sSORL1 in carriers of pathogenic variants.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

This study shows that perineuronal nets in the deep cerebellar nuclei are involved in regulating cerebellar plasticity and associative memory through structural and functional changes during eyeblink conditioning.