Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28 |
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Authors: | William Reardon Veronica Donoghue Anne-Marie Murphy Mary D King Philip D Mayne Nina Horn Lisbeth Birk Møller |
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Institution: | (1) Regional Hospital, Dooradoyle, Limerick, Ireland;(2) Children’s University Hospital, Temple St, Dublin 1, Ireland;(3) Kennedy Center, Gl. Landevej 7, 2600 Glostrup, Denmark;(4) National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland |
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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. |
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