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Resilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man
The male remained cognitively intact until 67 years of age despite carrying a PSEN1-E280A mutation. He had extremely elevated amyloid plaque burden and limited entorhinal Tau tangle burden.
He was heterozygous for a rare variant in RELN showing stronger ability to reduce human Tau phosphorylation in a knockin mouse.
#Biomedicine #Neuroscience #Brain #Neurology #NeurologicalDiseases #NeurodegenerativeDiseases #Neurodegeneration #Alzheimer #Tau #Reelin #ApoE #Dementia #Neurogenetics
