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Case report

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

Camilla Meossi Alessandro De Falco Deianira Rinaldi Stefano Pagano Alessandra Tessa R. Trovato L. Pezzoli Maria Iascone C. Ceccarini E. Freri E. Bartolini Stefano D’Arrigo S. Calderoni A. Canosa S. Gallone Elvira Verduci Donatella Milani F. Santorelli
Aug 2026 · Journal of Neurology · Vol 273 · 0 citations · 30 references
Medicine

TL;DR

The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.

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