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NEUROLOGY 2004;62:1216-1218
© 2004 American Academy of Neurology
Brief Communications

Cognitive functioning in humans with mutations of the PAX6 gene

P. J. Thompson, PhD, T. N. Mitchell, MRCP, S. L. Free, PhD, K. A. Williamson, PhD, I. M. Hanson, PhD, V. van Heyningen, PhD, A. T. Moore, FRCOpth and S. M. Sisodiya, MRCP PhD

From the Department of Clinical and Experimental Epilepsy (Drs. Thompson, Mitchell, Free, and Sisodiya), Institute of Neurology, University College London, and Division of Inherited Eye Disease (Dr. Moore), Institute of Ophthalmology, London, National Society for Epilepsy (Drs. Thompson, Mitchell, Free, and Sisodiya), Chalfont St Peter, Bucks, and MRC Human Genetics Unit (Drs. Hanson and van Heyningen, K.A. Williamson), Western General Hospital, Edinburgh, UK.

Address correspondence and reprint requests to Dr. P.J. Thompson, National Society for Epilepsy, Chalfont St Peter, Gerrards Cross, Bucks, SL9 0RJ, UK; e-mail: Pamt{at}epilepsynse.org.uk

Fourteen patients with PAX6 gene mutations and previously identified MRI abnormalities were administered tests of cognitive functioning. No deficits were found. A subgroup with agenesis of the anterior commissure performed significantly more poorly on measures of working memory than those without this abnormality, suggesting the anterior commissure may play a role in cognitive processing in addition to an earlier identified role in sensory development and processing.

Received October 13, 2003. Accepted in final form December 2, 2003.




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