BackgroundSubjective cognitive decline (SCD) represents the first early symptomatic stage of Alzheimer's disease (AD).ObjectiveWe aimed to investigate the relationships between features in SCD and to Show more
BackgroundSubjective cognitive decline (SCD) represents the first early symptomatic stage of Alzheimer's disease (AD).ObjectiveWe aimed to investigate the relationships between features in SCD and to assess the importance of these features in the future development of dementia to inform a targeted management protocol.Methods440 SCD patients underwent neurological and neuropsychological assessments, MRI scans, Show less
Protein truncating variants (PTVs) in To identify high-priority missense variants (HPVs), we applied ‘domain mapping of disease mutations’ for the 637 unique coding In this sample, PTVs and HPVs assoc Show more
Protein truncating variants (PTVs) in To identify high-priority missense variants (HPVs), we applied ‘domain mapping of disease mutations’ for the 637 unique coding In this sample, PTVs and HPVs associated with respectively a 35- and 10-fold increased risk of early onset AD and 17- and 6-fold increased risk of overall AD. The median age at onset (AAO) of PTV- and HPV-carriers was 62 and 64 years, and Our results justify a debate on whether HPV carriers should be considered for clinical counseling. The online version contains supplementary material available at 10.1186/s13024-025-00907-z. Show less