Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Agenesis of Corpus Callosum

  • John P. HegartyEmail author
  • Antonio Y. Hardan
  • Thomas W. Frazier
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_657-3


Short Description or Definition

The corpus callosum (CC) is the largest white matter fiber tract (also known as commissure) connecting the two hemispheres of the human brain. Agenesis of the corpus callosum (AgCC) is present at birth and encompasses structural defects of the development of the corpus callosum that range from partial to complete loss of these connective fiber tracts. Primary AgCC is a complete loss of the CC without other accompanying brain changes. A rare individual diagnosed with ASD is found to have AgCC.


The CC is generally divided into seven subregions (see “The Definition of the Corpus Callosum”).

AgCC is divided into partial (Fig. 1) and complete (Fig. 2) based on whether one or more subregions are missing (Fig. 1) or whether the entire CC is absent (Fig. 2). In...
This is a preview of subscription content, log in to check access.

References and Reading

  1. Boland, E., Clayton-Smith, J., Woo, V. G., McKee, S., Manson, F. D. C., Medne, L., … & Sherr, E. H. (2007). Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. The American Journal of Human Genetics, 81(2), 292–303.CrossRefGoogle Scholar
  2. Brown, W. S., & Paul, L. K. (2000). Cognitive and psychosocial deficits in agenesis of the corpus callosum with normal intelligence. Cognitive Neuropsychiatry, 5, 135–157.CrossRefGoogle Scholar
  3. Chiarello, C. (1980). A house divided? Cognitive functioning with callosal agenesis. Brain and Language, 11(1), 128–158.CrossRefGoogle Scholar
  4. David, A. S., Wacharasindhu, A., & Lishman, W. A. (1993). Severe psychiatric disturbance and abnormalities of the corpus callosum: Review and case series. Journal of Neurology, Neurosurgery, and Psychiatry, 56(1), 85–93.CrossRefGoogle Scholar
  5. Fischer, M., Ryan, S. B., & Dobyns, W. B. (1992). Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence. Archives of Neurology, 49(3), 271–277.CrossRefGoogle Scholar
  6. Friocourt, G., Kanatani, S., Tabata, H., Yozu, M. Takahashi, T., Antypa, M., … & Parnavelas, J. G. (2008). Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogensis. The Journal of Neuroscience, 28(22), 5794–5805.CrossRefGoogle Scholar
  7. Goodyear, P. W., Bannister, C. M., Russell, S., & Rimmer, S. (2001). Outcome in prenatally diagnosed fetal agenesis of the corpus callosum. Fetal Diagnosis and Therapy, 16(3), 139–145.  https://doi.org/10.1159/000053898 (pii).CrossRefPubMedGoogle Scholar
  8. Lau, Y. C., Hinkley, L. B. N., Bukshpun, P. Strominger, Z. A., Wakahiro, M. L. J., Baron-Cohen, S., … & Marco, E. J. (2013). Autism traits in individuals with agenesis of the corpus callosum. The Journal of Autism and Developmental Disorders, 43(5), 1106–1118.CrossRefGoogle Scholar
  9. O’Driscoll, M. C., Black, G. C. M., Clayton-Smith, J., Sherr, E. H., & Dobyns, W. B. (2010). Identification of genomic loci contributing to agenesis of the corpus callosum. The American Journal of Medical Genetics, 152A(9), 2145–2159.CrossRefGoogle Scholar
  10. Paul, L. K., Brown, W. S., Adolphs, R., Tyszka, J. M., Richards, L. J., & Mukherjee, P. (2007). Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity. Nature Reviews Neuroscience, 8, 287–299.CrossRefGoogle Scholar
  11. Roebuck, T. M., Mattson, S. N., & Riley, E. P. (1998). A review of the neuroanatomical findings in children with fetal alcohol syndrome or prenatal exposure to alcohol. Alcoholism, Clinical and Experimental Research, 22(2), 339–344.CrossRefGoogle Scholar
  12. Sauerwein, H. C., Nolin, P., & Lasonde, M. (1994). Callosal agenesis: A natural split brain. New York: Plenum.Google Scholar
  13. Shevell, M. I. (2002). Clinical and diagnostic profile of agenesis of the corpus callosum. Journal of Child Neurology, 17(12), 896–900.CrossRefGoogle Scholar
  14. Shoicet, S. A., Kunde, S-A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., … & Kalscheuer, V. M. (2005). Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Human Genetics, 117(6), 536–544.CrossRefGoogle Scholar
  15. Solursh, L. P., Margulies, A. I., Ashem, B., & Stasiak, E. A. (1965). The relationships of agenesis of the corpus callosum to perception and learning. The Journal of Nervous and Mental Disease, 141(2), 180–189.CrossRefGoogle Scholar
  16. Vergani, P., Ghidini, A., Strobelt, N., Locatelli, A., Mariani, S., Bertalero, C., & Cavallone, M. (1994). Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum. American Journal of Obstetrics and Gynecology, 170(3), 753–758.CrossRefGoogle Scholar
  17. Wang, L. W., Huang, C. C., & Yeh, T. F. (2004). Major brain lesions detected on sonographic screening of apparently normal term neonates. Neuroradiology, 46(5), 368–373.  https://doi.org/10.1007/s00234-003-1160-4.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • John P. Hegarty
    • 1
    Email author
  • Antonio Y. Hardan
    • 1
  • Thomas W. Frazier
    • 2
    • 3
  1. 1.Department of Psychiatry and Behavioral SciencesStanford UniversityStanfordUSA
  2. 2.Autism SpeaksNew YorkUSA
  3. 3.Cleveland Clinic Children’sClevelandUSA