Abstract
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.
MeSH terms
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Adolescent
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Adult
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Cognition / physiology*
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Cognition Disorders / complications
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Cognition Disorders / diagnosis*
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Cognition Disorders / genetics
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Corpus Callosum / pathology
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Corpus Callosum / physiopathology
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Eye Proteins
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Female
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Homeodomain Proteins / genetics*
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Humans
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Iris Diseases / complications
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Iris Diseases / genetics
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Magnetic Resonance Imaging
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Male
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Memory, Short-Term / physiology
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Middle Aged
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Mutation*
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Nervous System Malformations / complications
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Nervous System Malformations / genetics
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Nervous System Malformations / physiopathology
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Neuropsychological Tests
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PAX6 Transcription Factor
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Paired Box Transcription Factors
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Repressor Proteins
Substances
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Eye Proteins
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Homeodomain Proteins
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PAX6 Transcription Factor
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PAX6 protein, human
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Paired Box Transcription Factors
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Repressor Proteins