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Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX

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dc.contributor.authorStromme, P.
dc.contributor.authorBakke, S.
dc.contributor.authorDahl, A.
dc.contributor.authorGecz, J.
dc.date.issued2003
dc.description.abstractThe novel Aristaless related homeobox gene, ARX, is widely expressed in the brain and is thought to play a key role in the regulation of brain development. Neurological phenotypes caused by ARX mutations have recently started to unfold. We describe a 72 year old man with X-linked mental retardation due to a 24 bp duplication mutation in exon 2 of the ARX gene. Cerebral MRI showed bilateral cystic-like cavities in both the cerebral and cerebellar hemispheres. No retraction or expansion in neighbouring parenchyma was observed, there was no history of acute neurological impairment, and no risk factors for cerebrovascular disease were found. The lesions appeared to be congenital and represented benign developmental cysts, possibly caused by the ARX mutation.
dc.description.statementofresponsibilityP. Stromme, S.J. Bakke, A. Dahl and J. Gecz.
dc.identifier.citationJournal of Neurology, Neurosurgery and Psychiatry, 2003; 74(4):536-538
dc.identifier.doi10.1136/jnnp.74.4.536
dc.identifier.issn0022-3050
dc.identifier.issn1468-330X
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/37377
dc.language.isoen
dc.publisherBritish Med Journal Publ Group
dc.rightsCopyright © 2003 by the BMJ Publishing Group Ltd.
dc.source.urihttp://jnnp.bmj.com/cgi/content/abstract/74/4/536
dc.subjectARX gene, brain cysts, X-linked mental retardation
dc.titleBrain cysts associated with mutation in the Aristaless related homeobox gene, ARX
dc.typeJournal article
pubs.publication-statusPublished

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