Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

Hdl Handle:
http://hdl.handle.net/10147/263372
Title:
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
Authors:
Reardon, William; Donoghue, Veronica; Murphy, Anne-Marie; King, Mary D; Mayne, Philip D; Horn, Nina; Birk Møller, Lisbeth
Affiliation:
Regional Hospital, Dooradoyle, Limerick, Ireland. willie.reardon@olhsc.ie
Citation:
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28. 2010, 169 (8):941-9 Eur. J. Pediatr.
Journal:
European journal of pediatrics
Issue Date:
Aug-2010
URI:
http://hdl.handle.net/10147/263372
DOI:
10.1007/s00431-010-1144-4
PubMed ID:
20177701
Abstract:
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.
Item Type:
Article
Language:
en
MeSH:
Atrophy; Brain; Cerebellum; Child; Child, Preschool; Chromosomes, Human, X; Disease Progression; Family; Female; Gene Duplication; Humans; Infant; Lateral Ventricles; Magnetic Resonance Imaging; Male; Mental Retardation, X-Linked; Methyl-CpG-Binding Protein 2; Pedigree; Phenotype; Sex Factors; Tomography, X-Ray Computed; X Chromosome Inactivation
ISSN:
1432-1076

Full metadata record

DC FieldValue Language
dc.contributor.authorReardon, Williamen_GB
dc.contributor.authorDonoghue, Veronicaen_GB
dc.contributor.authorMurphy, Anne-Marieen_GB
dc.contributor.authorKing, Mary Den_GB
dc.contributor.authorMayne, Philip Den_GB
dc.contributor.authorHorn, Ninaen_GB
dc.contributor.authorBirk Møller, Lisbethen_GB
dc.date.accessioned2012-12-20T11:32:15Z-
dc.date.available2012-12-20T11:32:15Z-
dc.date.issued2010-08-
dc.identifier.citationProgressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28. 2010, 169 (8):941-9 Eur. J. Pediatr.en_GB
dc.identifier.issn1432-1076-
dc.identifier.pmid20177701-
dc.identifier.doi10.1007/s00431-010-1144-4-
dc.identifier.urihttp://hdl.handle.net/10147/263372-
dc.description.abstractLocalised 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.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to European journal of pediatricsen_GB
dc.subject.meshAtrophy-
dc.subject.meshBrain-
dc.subject.meshCerebellum-
dc.subject.meshChild-
dc.subject.meshChild, Preschool-
dc.subject.meshChromosomes, Human, X-
dc.subject.meshDisease Progression-
dc.subject.meshFamily-
dc.subject.meshFemale-
dc.subject.meshGene Duplication-
dc.subject.meshHumans-
dc.subject.meshInfant-
dc.subject.meshLateral Ventricles-
dc.subject.meshMagnetic Resonance Imaging-
dc.subject.meshMale-
dc.subject.meshMental Retardation, X-Linked-
dc.subject.meshMethyl-CpG-Binding Protein 2-
dc.subject.meshPedigree-
dc.subject.meshPhenotype-
dc.subject.meshSex Factors-
dc.subject.meshTomography, X-Ray Computed-
dc.subject.meshX Chromosome Inactivation-
dc.titleProgressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.en_GB
dc.typeArticleen
dc.contributor.departmentRegional Hospital, Dooradoyle, Limerick, Ireland. willie.reardon@olhsc.ieen_GB
dc.identifier.journalEuropean journal of pediatricsen_GB
dc.description.provinceMunsteren

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