Volume 23, Issue 10 p. 1384-1390
Research Article

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

Teresa Temudo MD

Corresponding Author

Teresa Temudo MD

Unidade de Neuropediatria, Serviço de Pediatria, Hospital Geral de Santo António, Porto, Portugal

Unidade de Neuropediatria, Serviço de Pediatria, Hospital de Santo António, SA, Largo Abel Salazar, 4099/001 Porto, PortugalSearch for more papers by this author
Elisabete Ramos PhD

Elisabete Ramos PhD

Serviço de Higiene e Epidemiologia, Faculdade de Medicina, Universidade do Porto, Portugal

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Karin Dias MD

Karin Dias MD

Serviço de Neuropediatria, Hospital Da Estefânia, Lisboa, Portugal

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Clara Barbot MD

Clara Barbot MD

Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal

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Jose P. Vieira MD

Jose P. Vieira MD

Serviço de Neuropediatria, Hospital Da Estefânia, Lisboa, Portugal

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Ana Moreira MD

Ana Moreira MD

Serviço de Neuropediatria, Hospital Da Estefânia, Lisboa, Portugal

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Eulalia Calado MD

Eulalia Calado MD

Serviço de Neuropediatria, Hospital Da Estefânia, Lisboa, Portugal

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Ines Carrilho MD

Ines Carrilho MD

Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal

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Guiomar Oliveira MD, PhD

Guiomar Oliveira MD, PhD

Centro de Neuropediatria, Hospital Pediátrico, Coimbra, Portugal

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Antonio Levy MD, PhD

Antonio Levy MD, PhD

Unidade de Neuropediatria, Hospital Santa Maria, Lisboa, Portugal

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Maria Fonseca MD

Maria Fonseca MD

Unidade de Neuropediatria, Hospital Garcia da Orta, Almada, Portugal

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Alexandra Cabral MD

Alexandra Cabral MD

Centro de Neuropediatria, Hospital Pediátrico, Coimbra, Portugal

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Pedro Cabral MD

Pedro Cabral MD

Serviço de Neurologia, Hospital Egas Moniz, Lisboa, Portugal

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Joao P Monteiro MD

Joao P Monteiro MD

Unidade de Neuropediatria, Hospital Garcia da Orta, Almada, Portugal

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Luis Borges MD

Luis Borges MD

Centro de Neuropediatria, Hospital Pediátrico, Coimbra, Portugal

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Roseli Gomes MD

Roseli Gomes MD

Unidade de Neuropediatria, Hospital Pedro Hispano, Matosinhos, Portugal

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Manuela Santos MD

Manuela Santos MD

Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal

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Jorge Sequeiros PhD, MD

Jorge Sequeiros PhD, MD

Departamento de Estudos de Populações, ICBAS, Universidade do Porto, Portugal

UnIGENe, IBMC, Porto, Portugal

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Patricia Maciel PhD

Patricia Maciel PhD

Instituto de Investigação em Ciências da Vida e da Saúde (ICVS), Escola de Ciências da Saúde, Universidade Minho, Braga, Portugal

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First published: 30 May 2008
Citations: 66

Abstract

Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating, including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait, dystonia, type of tremor, and global score severity when comparing the group of patients with missense and truncating mutations. We also found differences in the presence, distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months; 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid-akinetic syndrome, when comparing groups with similar time of disease evolution. © 2008 Movement Disorder Society