Literature DB >> 21587242

Neurodevelopmental disorders: Clinical criteria for Rett syndrome.

Sakkubai Naidu1, Michael V Johnston.   

Abstract

Advances in the clinical and genetic understanding of Rett syndrome have meant that existing diagnostic guidelines for this neurodevelopmental disorder need to be revisited. New clinical criteria for the diagnosis of Rett syndrome by Neul and colleagues are welcome, but should more prominence be given to molecular diagnosis?

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Year:  2011        PMID： 21587242     DOI： 10.1038/nrneurol.2011.64

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  11 in total

1.  Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group.

Authors: 
Journal:  Ann Neurol       Date:  1988-04       Impact factor: 10.422

2.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Authors:  R E Amir; I B Van den Veyver; M Wan; C Q Tran; U Francke; H Y Zoghbi
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

3.  Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Authors:  M Wan; S S Lee; X Zhang; I Houwink-Manville; H R Song; R E Amir; S Budden; S Naidu; J L Pereira; I F Lo; H Y Zoghbi; N C Schanen; U Francke
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

4.  Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

Authors:  Teresa Temudo; Mónica Santos; Elisabete Ramos; Karin Dias; José Pedro Vieira; Ana Moreira; Eulália Calado; Inês Carrilho; Guiomar Oliveira; António Levy; Clara Barbot; Maria Fonseca; Alexandra Cabral; Pedro Cabral; José Monteiro; Luís Borges; Roseli Gomes; Graça Mira; Susana Aires Pereira; Manuela Santos; Anabela Fernandes; Jorg T Epplen; Jorge Sequeiros; Patrícia Maciel
Journal:  Brain Dev       Date:  2010-02-08       Impact factor: 1.961

5.  Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.

Authors:  Saideh Rajaei; Anna Erlandson; Marten Kyllerman; Margareta Albage; Isa Lundstrom; Ewa-Lotta Karrstedt; Bengt Hagberg
Journal:  J Child Neurol       Date:  2011-01       Impact factor: 1.987

6.  Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Authors:  Alan K Percy; Jeffrey L Neul; Daniel G Glaze; Kathleen J Motil; Steven A Skinner; Omar Khwaja; Hye-Seung Lee; Jane B Lane; Judy O Barrish; Fran Annese; Lauren McNair; Joy Graham; Katherine Barnes
Journal:  Ann Neurol       Date:  2010-12       Impact factor: 10.422

Review 7.  MECP2 mutations in males.

Authors:  Laurent Villard
Journal:  J Med Genet       Date:  2007-03-09       Impact factor: 6.318

8.  Identification of cis-regulatory elements for MECP2 expression.

Authors:  Jinglan Liu; Uta Francke
Journal:  Hum Mol Genet       Date:  2006-04-13       Impact factor: 6.150

9.  Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Authors:  Nadia Bahi-Buisson; Juliette Nectoux; Benoit Girard; Hilde Van Esch; Thomy De Ravel; Nathalie Boddaert; Perrine Plouin; Marlene Rio; Yann Fichou; Jamel Chelly; Thierry Bienvenu
Journal:  Neurogenetics       Date:  2009-10-06       Impact factor: 2.660

10.  Rett syndrome: revised diagnostic criteria and nomenclature.

Authors:  Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy
Journal:  Ann Neurol       Date:  2010-12       Impact factor: 10.422
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  9 in total

1.  Loss of MeCP2 in cholinergic neurons causes part of RTT-like phenotypes via α7 receptor in hippocampus.

Authors:  Ying Zhang; Shu-Xia Cao; Peng Sun; Hai-Yang He; Ci-Hang Yang; Xiao-Juan Chen; Chen-Jie Shen; Xiao-Dong Wang; Zhong Chen; Darwin K Berg; Shumin Duan; Xiao-Ming Li
Journal:  Cell Res       Date:  2016-04-22       Impact factor: 25.617

2.  Monogenic disorders that mimic the phenotype of Rett syndrome.

Authors:  Siddharth Srivastava; Sonal Desai; Julie Cohen; Constance Smith-Hicks; Kristin Barañano; Ali Fatemi; SakkuBai Naidu
Journal:  Neurogenetics       Date:  2018-01-10       Impact factor: 2.660

3.  Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil.

Authors:  Claudio De Felice; Cinzia Signorini; Thierry Durand; Lucia Ciccoli; Silvia Leoncini; Maurizio D'Esposito; Stefania Filosa; Camille Oger; Alexandre Guy; Valérie Bultel-Poncé; Jean-Marie Galano; Alessandra Pecorelli; Laura De Felice; Giuseppe Valacchi; Joussef Hayek
Journal:  Genes Nutr       Date:  2012-03-08       Impact factor: 5.523

Review 4.  Clinical and biological progress over 50 years in Rett syndrome.

Authors:  Helen Leonard; Stuart Cobb; Jenny Downs
Journal:  Nat Rev Neurol       Date:  2016-12-09       Impact factor: 42.937

5.  Foxg1 coordinates the switch from nonradially to radially migrating glutamatergic subtypes in the neocortex through spatiotemporal repression.

Authors:  Takuma Kumamoto; Ken-ichi Toma; William L McKenna; Takeya Kasukawa; Sol Katzman; Bin Chen; Carina Hanashima
Journal:  Cell Rep       Date:  2013-03-21       Impact factor: 9.423

6.  Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome.

Authors:  D W Pratt; J V Warner; M G Williams
Journal:  Mol Syndromol       Date:  2012-12-12

Review 7.  Recent advances in understanding synaptic abnormalities in Rett syndrome.

Authors:  Michael Johnston; Mary E Blue; Sakkubai Naidu
Journal:  F1000Res       Date:  2015-12-22

8.  Development of the Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database and the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire.

Authors:  Paramala Santosh; Kate Lievesley; Federico Fiori; Jatinder Singh
Journal:  BMJ Open       Date:  2017-06-21       Impact factor: 2.692

9.  Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.

Authors:  Paulina Kyriakopoulos; Vanda McNiven; Melissa T Carter; Peter Humphreys; David Dyment; Tadeu A Fantaneanu
Journal:  Child Neurol Open       Date:  2018-08-23
  9 in total

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