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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Atypical atypical MECP2-related rett syndrome presenting with movement disorders- predominating phenotype.
Mov. Disord. Clin. Pract., DOI: 10.1002/mdc3.70697 (2026)
BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a typical natural history, including early stagnation, rapid regression, a pseudostationary phase, and late motor deterioration. Seizures, autistic features, breathing abnormalities, stereotypies, and various movement disorders are often present. Currently, the diagnosis of atypical RTT requires a period of regression and fulfillment of at least two main criteria, and at least five of 11 supportive criteria. CASES: We describe five patients (aged 20-61 years), unexpectedly diagnosed with RTT, exhibiting a movement-disorder-predominant phenotype, most commonly dystonia. These patients lacked the typical natural course of RTT and, in most cases, showed preserved social functioning and an essentially normal life. As none of the patients fulfilled the diagnostic criteria for either typical or atypical RTT, we have labeled them as "atypical atypical" RTT. CONCLUSIONS: We recommend a revision of the current diagnostic criteria for RTT to include also more atypical presentations.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Mecp2 ; Atypical Rett Syndrome ; Case Series ; Diagnostic Criteria ; Movement Disorder‐predominant; Dystonia
ISSN (print) / ISBN
2330-1619
e-ISSN
2330-1619
Zeitschrift
Movement disorders clinical practice
Verlag
Wiley
Verlagsort
New York, NY
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
Charles University: Cooperatio Program in Neuroscience
Technical University of Munich - Institute for Advanced Study
Free State of Bavaria under the Excellence Strategy of the Federal Government and the Lander
Federal Ministry of Education and Research (BMBF)
"Schlüsselprojekt" grant from the Else Kröner-Fresenius-Stiftung (2022_EKSE.185), EJP RD (EJP RD Joint Transnational Call 2022) and the German Federal Ministry of Education and Research (BMBF, Bonn, Germany) PreDYT (PREdictive biomarkers in DYsTonia, 01GM
Technical University of Munich - Institute for Advanced Study
Free State of Bavaria under the Excellence Strategy of the Federal Government and the Lander
Federal Ministry of Education and Research (BMBF)
"Schlüsselprojekt" grant from the Else Kröner-Fresenius-Stiftung (2022_EKSE.185), EJP RD (EJP RD Joint Transnational Call 2022) and the German Federal Ministry of Education and Research (BMBF, Bonn, Germany) PreDYT (PREdictive biomarkers in DYsTonia, 01GM