The case study reports longitudinal in vivo and postmortem findings from a female patient with an autosomal dominant Alzheimer’s disease (ADAD) PSEN1 E280A carrier , homozygous for the APOE3 Christchurch (APOE3ch) variant. This rare variant protected the individual against Alzheimer’s disease (AD) symptoms for almost three decades beyond the usual age of onset. The patient died at the age of 77.
Neurological examination Significant for frontal release signs Diagnosis of mild dementia at age 75 The last assessment at age 76 revealed a further decline in cognition across all domains and activities of daily living. The cognitive profile during the last assessment indicated global deficits, consistent with the atrophy noted in the postmortem findings. In vivo MRI and PET scanning (at ages 73 and 75) PET : Aβ plaque burden, particularly in the neocortex; it decreased during the three-year…
