Discordant cerebrospinal fluid and positron emission tomography amyloid biomarkers in an APP mutation carrier presenting corticobasal syndrome.

ABSTRACT:

Introduction

While amyloid cerebrospinal fluid (CSF) and positron emission tomography (PET) biomarkers are considered interchangeable indicators of Alzheimer's disease (AD) pathology, biomarker discrepancies can occur but remain poorly characterized.

Methods

We evaluated ¹⁸F-florbetapir amyloid PET, ¹⁸F-Florzolotau PET (tau pathology), magnetic resonance imaging (MRI) findings, and CSF biomarkers in a 59-year-old man carrying the pathogenic APP p.K687Q mutation, who presented with possible corticobasal syndrome.

Results

CSF analysis revealed reduced amyloid beta (Aβ)_1-42 (503.44 pg/mL) and Aβ_1-42/Aβ_1-40 ratio (0.044), indicating amyloid pathology. Conversely, ¹⁸F-florbetapir PET was visually negative (s

SUBMITTER: Liu FT 

PROVIDER: S-EPMC12538635 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature