Abstract / Description of output
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.
Original language | English |
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Pages (from-to) | 1216-8 |
Number of pages | 3 |
Journal | Neurology |
Volume | 62 |
Issue number | 7 |
Publication status | Published - 13 Apr 2004 |
Keywords / Materials (for Non-textual outputs)
- Adolescent
- Adult
- Cognition/physiology
- Cognition Disorders/complications
- Corpus Callosum/pathology
- Eye Proteins
- Female
- Homeodomain Proteins/genetics
- Humans
- Iris Diseases/complications
- Magnetic Resonance Imaging
- Male
- Memory, Short-Term/physiology
- Middle Aged
- Mutation
- Nervous System Malformations/complications
- Neuropsychological Tests
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Repressor Proteins