03May 2021
A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

Presenilin-1 (PSEN1) mutations cause familial Alzheimer’s disease (FAD) characterized by early age of onset (AoO). Examination of a large kindred harboring the PSEN1-E280A mutation reveals a range of AoO spanning 30 years. The pathophysiological drivers and clinical impact of AoO variation in this population are unknown. We examined brains of 23 patients focusing on generation and deposition of beta-amyloid (Aβ) and Tau pathology profile...

  • #neurology

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