| Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28. | |
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MedLine Citation:
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PMID: 20177701 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Localised duplications, involving the MECP2 locus, at Xq28 have been associated with a syndrome comprising X-linked mental retardation, hypotonia and recurrent infections in males. We now present neuroradiological evidence that progressive cerebellar degenerative changes may also be a consistent feature of this syndrome, emerging in the second decade of life. We report seven affected males, from three different families who, in addition to the previously described clinical findings, have a reduction in the volume of the white matter and mild dilatation of the lateral ventricles. Three of the older patients show a consistent cerebellar degenerative phenotype. Furthermore, we describe the first female affected with the disorder. The female was mildly affected and shows X-inactivation in the ratio of 70:30, demonstrating that X-inactivation cannot be exclusively relied upon to spare the female carriers from symptoms. In conclusion, there is a radiological phenotype associated with Xq28 duplication which clearly demonstrates progressive degenerative cerebellar disease as part of the syndrome. |
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Authors:
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William Reardon; Veronica Donoghue; Anne-Marie Murphy; Mary D King; Philip D Mayne; Nina Horn; Lisbeth Birk Møller |
Publication Detail:
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Type: Journal Article Date: 2010-02-23 |
Journal Detail:
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Title: European journal of pediatrics Volume: 169 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-06-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 941-9 Citation Subset: IM |
Affiliation:
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Regional Hospital, Dooradoyle, Limerick, Ireland. willie.reardon@olhsc.ie |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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