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Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
  1. P Strømme1,
  2. S J Bakke2,
  3. A Dahl3,
  4. J Gécz4
  1. 1Department of Paediatrics, Rikshospitalet, The National Hospital, Oslo, Norway and Department of Paediatrics, Ullevål University Hospital, Oslo, Norway
  2. 2Section for Neuroradiology, Rikshospitalet, The National Hospital, Oslo, Norway
  3. 3Department of Neurology, Rikshospitalet, The National Hospital, Oslo, Norway
  4. 4Department of Cytogenetics and Molecular Genetics, Women’s and Children’s Hospital, North Adelaide, and Department of Paediatrics, University of Adelaide, South Australia
  1. Correspondence to:
 Dr Petter Strømme, Department of Paediatrics, Ullevål University Hospital, NO-0407 Oslo, Norway; 
 petter.stromme{at}ioks.uio.no

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.

  • ARX gene
  • brain cysts
  • X-linked mental retardation

https://doi.org/10.1136/jnnp.74.4.536

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