Cognitive functioning in humans with mutations of the PAX6 gene.
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.
Thompson
P J
PJ
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK. Pamt@epilepsynse.org.uk
Mitchell
T N
TN
Free
S L
SL
Williamson
K A
KA
Hanson
I M
IM
van Heyningen
V
V
Moore
A T
AT
Sisodiya
S M
SM
D000293:Adolescent; D000328:Adult; D003071:Cognition / Q000502:physiology*; D003072:Cognition Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003337:Corpus Callosum / Q000473:pathology / Q000503:physiopathology; D005136:Eye Proteins; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007499:Iris Diseases / Q000150:complications / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008570:Memory, Short-Term / Q000502:physiology; D008875:Middle Aged; D009154:Mutation; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D009483:Neuropsychological Tests; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins