Case report
Aug 2026
Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants
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.
Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al.
· Journal of Neurology · 0 citations