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Article

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

European journal of pediatrics - 1 Aug 2010

Reardon William, Donoghue Veronica, Murphy Anne-Marie, King Mary D, Mayne Philip D, Horn Nina, Birk Møller Lisbeth

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

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Source

Identifiers

PMID: 20177701
DOI: 10.1007/s00431-010-1144-4

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.PMID 20177701Read ↗

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.Semantic proximity Read ↗

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Semantic proximity Read ↗

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.Semantic proximity Read ↗

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.Semantic proximity Read ↗

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.Semantic proximity Read ↗

MECP2 duplication syndrome in both genders.Semantic proximity Read ↗

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.Semantic proximity Read ↗

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