Neuropathology of trisomy 21 mosaicism in a case with early-onset dementia.

ABSTRACT:

Introduction

This study investigated the impact of trisomy 21 mosaicism (mT21) on Alzheimer's disease (AD) neuropathology in a well-characterized clinical case described by Ringman et al.

Methods

We describe AD neuropathology in mT21 including amyloid beta, phosphorylated tau, astrogliosis, microgliosis, α-synuclein, and TAR DNA-binding protein 43 (TDP-43) in cerebral cortex, hippocampal subregions, and amygdala using immunohistochemistry.

Results

We observed high AD neuropathologic change with a score of A3B3C3. In addition, there was widespread astrogliosis, cerebral amyloid angiopathy, and perivascular space widening throughout the brain. Lewy bodies and neurites were noted in the amygdala only and no TDP-43 was observed.

Discussion

The findings in this case

SUBMITTER: Ngo PT 

PROVIDER: S-EPMC11772706 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature