Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are les...

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Veröffentlicht in:	Neurology 2007-04, Vol.68 (15), p.1183-1187
Hauptverfasser:	Temudo, T., Oliveira, P., Santos, M., Dias, K., Vieira, J., Moreira, A., Calado, E., Carrilho, I., Oliveira, G., Levy, A., Barbot, C., Fonseca, M., Cabral, A., Dias, A., Cabral, P., Monteiro, J., Borges, L., Gomes, R., Barbosa, C., Mira, G., Eusébio, F., Sequeiros, J., Maciel, P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Child Child, Preschool Ciências Médicas Comorbidity Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis DNA Mutational Analysis - methods Female Genetic Predisposition to Disease Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics Genetic Testing Genetic Testing - methods Heterozygote Humans Incidence Infant Male Medical sciences Medicina Clínica Methyl-CpG-Binding Protein 2 - genetics Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Mutation Neurology Polymorphism Polymorphism, Single Nucleotide - genetics Portugal Portugal - epidemiology Preschool Prevalence Rett Syndrome Rett Syndrome - genetics Risk Assessment Risk Assessment - methods Risk Factors Science & Technology Single Nucleotide Stereotypic Movement Disorder Stereotypic Movement Disorder - epidemiology Stereotypic Movement Disorder - genetics
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Zusammenfassung:	Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are less well characterized. Research on RTT is supported by FSE/FEDER and Fundação para a Ciência e Tecnologia (FCT), Portugal, grant POCTI 41416/2001. M.S. is the recipient of a PhD fellowship by FCT (SFRH/BD/9111/2002).
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000259086.34769.78