A neuropathology case report of a woman with Down syndrome who remained cognitively stable: Implications for resilience to neuropathology.

ABSTRACT:

Introduction

Aging adults with Down syndrome (DS) accumulate Alzheimer's disease (AD) neuropathology, including amyloid beta plaques and neurofibrillary tangles, by age 40.

Methods

We present findings from an individual with DS who remained cognitively stable despite AD neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, and neuropathological examinations were conducted to characterize her condition.

Results

Her apolipoprotein E was ε2/ε3 and genome-wide association study data indicated mosaicism. Neuroimaging revealed stable yet elevated amyloid and moderately elevated tau levels, while neuropathology indicated intermediate AD neuropathologic change with Lewy body and cerebrovascular pathologies. The participant demonstrated stable cognitive functio

SUBMITTER: Liou JJ 

PROVIDER: S-EPMC11851131 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature