Defective auditory interhemispheric transfer in a patient with a PAX6 mutation

Neurology. 2004 Feb 10;62(3):489-90. doi: 10.1212/01.wnl.0000106950.74155.0a.

Abstract

Heterozygous PAX6 mutation is associated with an absent or hypoplastic anterior commissure and a reduction in the area of the corpus callosum. The authors found deficient auditory interhemispheric transfer in a 53-year-old woman with a PAX6 mutation who had an absent anterior commissure but normal callosal volume.

Publication types

  • Case Reports

MeSH terms

  • Auditory Pathways / physiopathology*
  • Auditory Perception / physiology*
  • Corpus Callosum / physiopathology*
  • Dichotic Listening Tests
  • Eye Abnormalities / genetics
  • Eye Proteins
  • Female
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / physiology
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Repressor Proteins
  • Septal Nuclei / abnormalities*
  • Speech Perception / physiology

Substances

  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins