Skip to main content
Log in

Congenital brain anomalies and chromosomal aberrations from the Zagreb Collection of human brains

  • Review Article
  • Published:
Translational Neuroscience

Abstract

The Zagreb Collection of developing and adult human brains consists of approximately 1,300 brains of fetuses, children and adults that were collected following routine autopsies in the period from 1974 to 2014. The collection comprises brains of different normal developmental stages that may serve for investigation of normal human brain development. Previous studies on this material have led to several important contributions on human cortical development, such as the discovery of the transient fetal subplate zone. The Zagreb Collection, however, also contains approximately 100 brains with different anomalies including chromosomal aberrations such as Down syndrome. We have analyzed all the available material from the Zagreb Collection and identified 44 brains of fetuses and children with Down syndrome, 10 with Patau syndrome, 6 with Edwards syndrome as well as 7 holoprosencephalic, 7 hydrocephalic and 4 microcephalic brains. The largest part of the Collection is available for further research using modern genetic, immunocytochemical and imaging methods, especially magnetic resonance imaging. Furthermore, the histological slides from the Zagreb Collection are currently being digitally scanned and made available as virtual slides to general scientific audience. The Zagreb Collection represents unique and versatile resource for the future study of normal and abnormal human brain development.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Norman M.G., Congenital malformations of the brain, Oxford University Press, New York, USA, 1995

    Google Scholar 

  2. Dimmick J.E., Kalousek D.K. (Eds.), Developmental pathology of the embryo and the fetus, J.B. Lippincott & Co., Philadelphia, 1992

    Google Scholar 

  3. Gilbert-Barness E., Potter’s pathology of the fetus, infant and child, 2nd ed., Mosby, Elsevier, St. Louis, MO,USA, 2007

    Google Scholar 

  4. Wigglesworth JS, Singer DB (Eds.), Textbook of Fetal and Perinatal Pathology, 2nd ed, Blackwell Science Inc., 1998

    Google Scholar 

  5. Barkovich A.J., Kuzniecky R.I., Dobyns W.B., Radiologic classification of malformations of cortical development, Curr. Opin. Neurol., 2001, 14, 145–149

    Article  PubMed  CAS  Google Scholar 

  6. Barkovich A.J., Kuzniecky R.I., Jackson G.D., Guerrini R., Dobyns W.B., A developmental and genetic classification for malformations of cortical development, Neurology, 2005, 65, 1873–1887

    Article  PubMed  CAS  Google Scholar 

  7. Barkovich A.J., Guerrini R., Kuziencky R.I., Jackson G.D., Dobyns W.B., A developmental and genetic classification for malformations of cortical development: update 2012, Brain, 2012, 135, 1348–1369

    Article  PubMed  PubMed Central  Google Scholar 

  8. Kuznicky R., Jackson G., Magnetic resonance in epilepsy, In: Kaplan P.W., Loiseau P., Fisher R.S., Jallon P. (Eds.), Epilepsy A to Z: a glossary of epilepsy terminology, Raven Press, New York, USA, 1995

    Google Scholar 

  9. Gaitanis J.N., Walsh C.A., Genetics of disorders of cortical development, Neuroimaging Clin. N. Am., 2004, 14, 219–229

    Article  PubMed  Google Scholar 

  10. Muenke M., Beachy P.A., Genetics of ventral forebrain development and holoprosencephaly, Curr. Opin. Genet. Dev., 2000, 10, 262–269

    Article  PubMed  CAS  Google Scholar 

  11. Walsh C.A., Genetic malformations of the human cerebral cortex, Neuron 1999, 23, 19–29

    Article  PubMed  CAS  Google Scholar 

  12. Gleeson J.G., Walsh C.A., Neuronal migration disorders: from genetic diseases to developmental mechanisms, Trends Neurosci., 2000, 23, 352–359

    Article  PubMed  CAS  Google Scholar 

  13. Clark G.D., The classification of cortical dysplasias through molecular genetics, Brain Dev., 2004, 26, 351–362

    Article  PubMed  Google Scholar 

  14. Iannicelli M., Bruncati F., Mougou-Zerelli S., Mazzotta A., Thomas S., Elkhartoufi N., et al., Novel TMEM67 mutations and genotypephenotype correlates in meckelin-related ciliopathies, Hum. Mutat., 2010, 31, E1319–1331

    PubMed  CAS  PubMed Central  Google Scholar 

  15. Kostović I., Rakic P., Cytology and time of origin of intersitital neurons in the white matter in infant and adult human and monkey telencephalon, J. Neurocytol., 1980, 9, 219–242

    Article  PubMed  Google Scholar 

  16. Kostović I., Rakic P., Developmental history of the transient subplate zone in the visual and somatosensory cortex of the macaque monkey and human brain, J. Comp. Neurol. 1990, 297, 441–470

    Article  PubMed  Google Scholar 

  17. Kostović I., Judaš M., Kostović-Knežević Lj. Šimić G., Delalle I., Chudy D., et al., Zagreb research collection of human brains for developmental neurobiologists and clinical neuroscientists, Int. J. Dev. Biol., 1991, 35, 215–230

    PubMed  Google Scholar 

  18. Šimić G., Kostović I, Winblad B, Bogdanović N, Volume and number of neurons of the human hippocampal formation in normal aging and Alzheimer’s disease, J. Comp. Neurol., 1997, 379, 482–494

    Article  PubMed  Google Scholar 

  19. Krušlin B., Jukić S., Kos M., Šimić G., Cviko A., Congenital anomalies of the central nervous ystem at autopsy in Croatia in the period before and after the Chernobyl accident, Acta Med. Croat., 1998, 52, 103–107

    Google Scholar 

  20. Šimić G., Mrzljak L., Fučić A., Winblad B., Lovrić H., Kostović I., Nucleus subputaminalis (Ayala): the still disregarded magnocellular component of the basal forebrain may be human specific and connected with the cortical speech area, Neuroscience, 1999, 89, 73–89

    Article  PubMed  Google Scholar 

  21. Šimić G., Šešo-Šimić Đ., Lucassen P.J., Islam A., Krsnik Z., Cviko A., et al., Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease, J. Neuropathol. Exp. Neurol., 2000, 59, 398–407

    PubMed  Google Scholar 

  22. Kostović I., Judaš M., Radoš M., Hrabač P., Laminar organization of the human fetal cerebrum revealed by histochemical markers and magnetic resonance imaging, Cereb. Cortex, 2002, 12, 536–544

    Article  PubMed  Google Scholar 

  23. Kostović I., Judaš M., Correlation between the sequential ingrowth of afferents and transient patterns of cortical lamination in preterm infants, Anat. Rec., 2002, 267, 1–6

    Article  PubMed  Google Scholar 

  24. Judaš M., Rašin M.R., Krušlin B., Kostović K., Jukić D., Petanjek Z., et al., Dendritic overgrowth and alterations in laminar phenotypes of neocortical neurons in the newborn with semilobar holoprosencephaly, Brain Dev., 2003, 25, 32–39

    Article  PubMed  Google Scholar 

  25. Šimić G., Bexheti S., Kelović Z., Kos M., Grbić K., Hof P.R., et al., Hemispheric asymmetry, modular variability and age-related changes in the human entorhinal cortex, Neuroscience, 2005, 130, 911–925

    Article  PubMed  Google Scholar 

  26. Judaš M., Radoš M., Jovanov-Milošević N., Hrabač P., Štern-Padovan R., Kostović I., Structural, immunocytochemical, and MR imaging properties of periventricular crossroads of growing cortical pathways in preterm infants, Am. J. Neuroradiol., 2005, 26, 2671–2684

    PubMed  Google Scholar 

  27. Šimić G., Mladinov M., Šešo-Šimić Đ., Jovanov-Milošević N., Islam A., Pajtak A., et al., Abnormal motoneuron migration, differentiation and axon overgrowth in spinal muscular atrophy, Acta Neuropathol., 2008, 115, 313–326

    Article  PubMed  Google Scholar 

  28. Fertuzinhos S., Krsnik Ž., Kawasawa Y.I., Rašin M.R., Kwan K.Y., Chen J.G., et al., Selective depletion of molecularly defined cortical interneurons in human holoprosencephaly with severe striatal hypoplysia, Cereb. Cortex., 2009, 19, 2196–2207

    Article  PubMed  PubMed Central  Google Scholar 

  29. Mladinov M., Mayer D., Brčić L., Wolstencroft E., Man N.T., Holt I., et al., Astrocyte expression of D2-like dopamine receptors in the prefrontal cortex, Transl. Neurosci., 2010, 1, 238–243

    Article  Google Scholar 

  30. Judaš M., Šimić G., Petanjek Z., Jovanov-Milošević N., Pletikos M., Vasung L., et al., The Zagreb Collection of human brains: a unique, versatile, but unexploited resource for the neuroscience community, Ann. NY Acad. Sci., 2011, 1225(S1), E105–E130

    Google Scholar 

  31. Raghanti M.A., Šimić G., Watson S., Stimpson C.D., Hof P.R., Sherwood C.C., Comparative analysis of the nucleus basalis of Meynert among primates, Neuroscience, 2011, 184, 1–15

    Article  PubMed  CAS  Google Scholar 

  32. Petanjek Z., Judaš M., Šimić G., Rašin M.R., Uylings H.B.M., Rakic P., et al., Extraordinary neoteny of synaptic spines in the human prefrontal cortex, Proc. Natl. Acad. Sci. USA, 2011, 108, 13281–13286

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  33. Judaš M., Cepanec M., Sedmak G., Brodmann’s map of the human cerebral cortex — or Brodmann’s maps?, Transl. Neurosci., 2012, 3, 67–74

    Article  Google Scholar 

  34. Šimić, G., Hof P.R., In search of the definitive Brodmann’s map of cortical areas in human, J. Comp. Neurol., 2014, Epub ahead of press, DOI: 10.1002/cne.23636

    Google Scholar 

  35. Molliver M.E., Kostović I., van der Loos H., The development of synapses in cerebral cortex of the human fetus, Brain Res., 1973, 50, 403–407

    Article  PubMed  CAS  Google Scholar 

  36. Vukšić M., Petanjek Z., Rašin M.R., Kostović I., Perinatal growth of prefrontal layer III pyramids in Down syndrome, Pediatr. Neurol., 2002, 27, 36–38

    Article  PubMed  Google Scholar 

  37. Vukšić M., Petanjek Z., Kostović I., Development of prefrontal layer III pyramidal neurons in infants with Down syndrome, Transl. Neurosci., 2011, 2, 225–232

    Article  Google Scholar 

  38. Judaš M., Sedmak G., Radoš M., Sarnavka V., Fumić K., Willer T., et al., POMT1-associated Walker-Warburg syndrome: a disorder of dendritic development of neocortical neurons, Neuropediatrics, 2009, 40, 6–14

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Božo Krušlin.

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Krušlin, B., Džombeta, T., Bezjak, M. et al. Congenital brain anomalies and chromosomal aberrations from the Zagreb Collection of human brains. Translat.Neurosci. 5, 293–301 (2014). https://doi.org/10.2478/s13380-014-0231-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.2478/s13380-014-0231-9

Keywords

Navigation