Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/37377
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Type: Journal article
Title: Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
Author: Stromme, P.
Bakke, S.
Dahl, A.
Gecz, J.
Citation: Journal of Neurology Neurosurgery and Psychiatry, 2003; 74(4):536-538
Publisher: British Med Journal Publ Group
Issue Date: 2003
ISSN: 0022-3050
1468-330X
Statement of
Responsibility: 
P. Stromme, S.J. Bakke, A. Dahl and J. Gecz.
Abstract: The 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.
Keywords: ARX gene, brain cysts, X-linked mental retardation
Rights: Copyright © 2003 by the BMJ Publishing Group Ltd.
RMID: 0020030271
DOI: 10.1136/jnnp.74.4.536
Published version: http://jnnp.bmj.com/cgi/content/abstract/74/4/536
Appears in Collections:Paediatrics publications

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