The Nodding syndrome cerebrospinal fluid proteome: a lens into neurodevelopmental failure consistent with environmentally triggered <i>MECP2</i> dysregulation?

ABSTRACT:

Introduction

Nodding Syndrome (NS) is a childhood-onset epileptic encephalopathy of unknown etiology, occurring in clustered outbreaks across East Africa. Despite extensive investigation, its molecular underpinnings remain unresolved.

Methods

We performed an 18-plex tandem mass tag (TMT)-based quantitative proteomic analysis of immunodepleted cerebrospinal fluid (CSF) from Ugandan NS patients (n = 9) and age-comparable Ugandan Controls (n = 9). Differential protein abundance and pathway-level enrichment analyses were conducted to identify dysregulated molecular networks.

Results

A total of 2,195 CSF proteins were quantified, of which 544 showed statistically significant differential abundance. Dysregulated pathways spanned immune signaling, proteostasis,

SUBMITTER: Valdes Angues R 

PROVIDER: S-EPMC12894381 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature