| Rett syndrome: clinical and epidemiological aspects in a Brazilian institution. | |
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MedLine Citation:
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PMID: 14762589 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend--learning, hand use and speech--leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7%): 17 (70.8%) had classical RS; 5 (20.8%), atypical RS and 2 (8.4%), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding. |
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Authors:
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Cristina M Pozzi; Sergio Rosemberg |
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Publication Detail:
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Type: Journal Article Date: 2004-01-06 |
Journal Detail:
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Title: Arquivos de neuro-psiquiatria Volume: 61 ISSN: 0004-282X ISO Abbreviation: Arq Neuropsiquiatr Publication Date: 2003 Dec |
Date Detail:
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Created Date: 2004-02-05 Completed Date: 2004-06-08 Revised Date: 2009-11-11 |
Medline Journal Info:
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Nlm Unique ID: 0125444 Medline TA: Arq Neuropsiquiatr Country: Brazil |
Other Details:
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Languages: eng Pagination: 909-15 Citation Subset: IM |
Affiliation:
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Neurology Division Department of Paediatrics, Santa Casa Medical School, Sao Paulo, SP, Brazil. cristinapozzi@ig.com.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Age Distribution Age of Onset Brain Damage, Chronic / physiopathology* Brazil / epidemiology Child Child, Preschool CpG Islands / genetics DNA-Binding Proteins / genetics Electroencephalography Female Follow-Up Studies Genotype Humans Mutation Phenotype Prevalence Rett Syndrome / diagnosis*, epidemiology, genetics |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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