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F. Santorelli

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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. · 0 citations
Jul 2026

Neurodevelopmental alterations are key drivers of SPG56.

Combined transcriptomics profiling in cyp2u1-/- zebrafish and SPG56 patient iPSC-derived cortical neurons supports impaired neural network development as a key disease mechanism.

D. Galatolo, Devid Damiani, V. Naef et al. · 0 citations