Differences in the Neurophysiology of Infants with Down Syndrome May Predict Protective/Risk Markers for Subsequent Alzheimer’s Disease
Background;
Most individuals with DS: AD brain pathology by middle age but not all get dementia
Amyloid precursor protein (APP) gene on Hsa21 over-expressed from infancy onwards
Signs of amyloid plaque build-up already present in some infants at 20 months (Gyure et al., 2011).
Still not understood why some do/don’t go on to develop AD dementia
Only way to fully understand phenotypic endpoint at neural, cognitive or behavioural levels: trace it back to its developmental origins (Karmiloff-Smith 1998)
Most individuals with DS: AD brain pathology by middle age but not all get dementia
Amyloid precursor protein (APP) gene on Hsa21 over-expressed from infancy onwards
Signs of amyloid plaque build-up already present in some infants at 20 months (Gyure et al., 2011).
Still not understood why some do/don’t go on to develop AD dementia
Only way to fully understand phenotypic endpoint at neural, cognitive or behavioural levels: trace it back to its developmental origins (Karmiloff-Smith 1998)