Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.

ABSTRACT:

Objective

Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved. The aim of this study was to identify biomarkers distinguishing RTT from MDS.

Materials and methods

We prospectively enrolled 11 MDS and 6 male RTT like (MRL) individuals for a panel of clinical and neurophysiological assessments over two visits, 8-10 months apart.

Results

We identified numerous clinical and physiological features as promising biomarkers. MRL individuals exhibited large amplitude whole body tremor, midline stereoty

SUBMITTER: Pehlivan D 

PROVIDER: S-EPMC11822789 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature