| Congenital ataxia and mental retardation in three brothers. | |
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MedLine Citation:
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PMID: 15246495 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Nonprogressive congenital ataxia is a complex group of disorders caused by a variety of etiologic factors, both environmental and genetic. Hereditary forms represent a substantial part of congenital ataxias, which are difficult to classify because of their phenotypic and genetic polymorphism. Despite the advances in molecular genetics, for most nonprogressive congenital ataxia the etiology is still unknown. This report describes three sons of nonconsanguineous healthy parents, who manifested a syndrome characterized by nonprogressive ataxia, mental retardation, pyramidal signs, ocular and ocular motor anomalies, associated with severe hypoplasia of the cerebellar vermis and hemispheres on neuroimaging. All the patients have presented psychomotor developmental delay. As differential diagnosis, a comparison is made between the clinical features of these patients and the previously reported cases of nonprogressive congenital ataxia. This report represents a further example of the phenotypic and genetic heterogeneity of the syndromes with congenital ataxia. |
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Authors:
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Lucia Margari; Patrizia Ventura; Anna Presicci; Maura Buttiglione; Tommaso Perniola |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 31 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2004 Jul |
Date Detail:
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Created Date: 2004-07-12 Completed Date: 2004-09-24 Revised Date: 2006-05-23 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 59-63 Citation Subset: IM |
Affiliation:
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Child Neurological and Psychiatric Service, Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Ataxia / congenital, pathology* Cerebellum / pathology Cerebral Cortex / pathology Child Developmental Disabilities / pathology* Humans Magnetic Resonance Imaging Male Mental Retardation / pathology* Siblings |
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