Cognitive functioning in humans with mutations of the PAX6 gene

P J Thompson; T N Mitchell; S L Free; K A Williamson; I M Hanson; V van Heyningen; A T Moore; S M Sisodiya

Cognitive functioning in humans with mutations of the PAX6 gene

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

Research output: Contribution to journal › Article › peer-review

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
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

Cite this

@article{343da80190954ffc99262f5b0450e6d3,

title = "Cognitive functioning in humans with mutations of the PAX6 gene",

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.",

keywords = "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",

author = "Thompson, {P J} and Mitchell, {T N} and Free, {S L} and Williamson, {K A} and Hanson, {I M} and {van Heyningen}, V and Moore, {A T} and Sisodiya, {S M}",

year = "2004",

month = apr,

day = "13",

language = "English",

volume = "62",

pages = "1216--8",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "7",

}

TY - JOUR

T1 - Cognitive functioning in humans with mutations of the PAX6 gene

AU - Thompson, P J

AU - Mitchell, T N

AU - Free, S L

AU - Williamson, K A

AU - Hanson, I M

AU - van Heyningen, V

AU - Moore, A T

AU - Sisodiya, S M

PY - 2004/4/13

Y1 - 2004/4/13

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Cognition/physiology

KW - Cognition Disorders/complications

KW - Corpus Callosum/pathology

KW - Eye Proteins

KW - Female

KW - Homeodomain Proteins/genetics

KW - Humans

KW - Iris Diseases/complications

KW - Magnetic Resonance Imaging

KW - Male

KW - Memory, Short-Term/physiology

KW - Middle Aged

KW - Mutation

KW - Nervous System Malformations/complications

KW - Neuropsychological Tests

KW - PAX6 Transcription Factor

KW - Paired Box Transcription Factors

KW - Repressor Proteins

M3 - Article

C2 - 15079031

SN - 0028-3878

VL - 62

SP - 1216

EP - 1218

JO - Neurology

JF - Neurology

IS - 7

ER -

Cognitive functioning in humans with mutations of the PAX6 gene

Abstract / Description of output

Keywords / Materials (for Non-textual outputs)

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