Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

Título: Rett syndrome: revised diagnostic criteria and nomenclature

Autores: Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium.

Abstract: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

 

Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.

Link: https://pubmed.ncbi.nlm.nih.gov/21154482/

 

 

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