Skip to main content
SpringerLink
Log in

Early Diagnosis and Prevention of Genetic Disease

  • Chapter
Early Detection and Management of Cerebral Palsy

Part of the book series: Topics in the Neurosciences ((TNSC,volume 6))

  • 147 Accesses

Abstract

In chapter 1 the Hagberg’s conclude that out of four major neurodevelopmental impairments cerebral palsy is most closely related to negative perinatal events. Yet, genetic factors and disturbances during organogenesis and in later pregnancy have also been mentioned as a possible etiology (1). These observations need not be contradictory since many perinatal events have their origin during the prenatal period; also disturbances during embryonic development may be caused by genetic or environmental factors alone or by a combination of both. Studies on the (genetic) etiology of cerebral palsy (CP) are, however, especially difficult because it represents a rather heterogeneous group of chronic neurological conditions rather than a well defined clinical syndrome (2).

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Stanley F (1984): Prenatal risk factors in the study of the cerebral palsies. In The epidemiology of the cerebral palsies. Stanley, F and Alberman, E (eds), pp 87–97. Series Clinics in Developmental Medicine No 87. Spastics Int Med Publ Blackwells, Oxford and Lippincott, Philadelphia

    Google Scholar 

  2. Gordon N (1976): Paediatric Neurology for the Clinician. Clinics in Developmental Medicine No 59/60, pp 134–153. Spastics Int Med Publ W Heinemann, London and Lippincott, Philadelphia

    Google Scholar 

  3. Bobrow M (1986): The possible role of genetic factors in cerebral palsy. Unpublished lecture International Conference “Ideas in Cerebral Palsy” organized by the Spastics Society Athens and the ICPS, Athens, April 1986

    Google Scholar 

  4. Gustavson KH, Hagberg B and Sanner C (1969): Identical syndromes of cerebral palsy in the same family. Acta Paed Scand 58, 330–340

    Article  CAS  Google Scholar 

  5. Illingworth RS (1979): Why blame the obstetrician? A review. Brit Med J 1, 797–801

    Article  PubMed  CAS  Google Scholar 

  6. Carter CO (1976): Genetics of common single malformations. Brit Med Bull 32, 21–26

    PubMed  CAS  Google Scholar 

  7. Drillien CM (1968): Studies in mental handicap. Arch Dis Childh 43, 285–291

    Article  Google Scholar 

  8. Barraitser M and Winter R (1983): A colour atlas of clinical genetics. Wolfe Medical Publ London

    Google Scholar 

  9. Mc.Kusick VA (1983): Mendelian inheritance in man. 6th ed The Johns Hopkins University Press, Baltimore

    Google Scholar 

  10. Galjaard H (1980): Genetic metabolic diseases; early diagnosis and prenatal analysis. Elsevier/North Holland, Amsterdam/N York

    Google Scholar 

  11. Stanbury JB, Wijngaarden JB, Frederickson DS, Goldstein JL and Brown NS (1983): The metabolic basis of inherited disease. 5th ed McGraw-Hill, N York

    Google Scholar 

  12. Hers HG and Van Hoof F (1973): Lysosomes and storage diseases. Acad Press, N York

    Google Scholar 

  13. Dingle JT, Dean RT and Sly W (eds) (1984): Lysosomes in biology and pathology. Vol 7 Elsevier, Amsterdam/N.York

    Google Scholar 

  14. Barranger JA and Brady RO (eds) (1984): Molecular basis of lysosomal storage disorders. Acad Press, N York

    Google Scholar 

  15. Kornfeld S (1986): Trafficking of lysosomal enzymes in normal and disease states. J. Clin Invest 77, 1–6

    Article  PubMed  CAS  Google Scholar 

  16. Williamson R (ed) (1981–1984): Genetics engineering. Vol. 1–4, Acad Press, N York

    Google Scholar 

  17. Walker JM (ed) (1984): Methods in molecular biology. Vol. 2 Nucleid acids. Humana Press, Clifton (NY)

    Google Scholar 

  18. Grouchy J de et Turleau C (1977): Atlas de maladies chromosomiques, Exp Scient Franc Paris

    Google Scholar 

  19. Hook EB and Porter IH (1977): Population cytogenetics, Acad Press, N York

    Google Scholar 

  20. International System for Human Cytogenetic Nomenclature (1985), Report of the Standing Committee, Cytogenetics and Cell Genetics, special issue, Karger Basel

    Google Scholar 

  21. Schwarz, DC and Cantor CR (1984): Separation of yeast chromosome-sized DNA’s by pulse field gradient electrophoresis, Cell 37, 67–75

    Article  Google Scholar 

  22. Sachs ES, Jahoda MGJ, Van Hemel JO, Hoogeboom JAJM and Sandkuijl LA (1985): Chromosome studies of 500 couples with two or more abortions, Obstetrics & Gynecology 65, 375–378

    CAS  Google Scholar 

  23. Hook EB (1981): Rates of chromosome abnormalities at different material ages, Obstetrics & Gynecology 58, 282

    CAS  Google Scholar 

  24. Bremer HJ, Duran M, Kamerling JP, Przyrembel H and Wadman SK (1981): Disturbances of aminoacid metabolism: clinical chemistry and diagnosis, Urban & Schwarzenberg, Baltimore

    Google Scholar 

  25. Goodman SI and Markey SP (1981): Diagnosis of Organic Acidemias by gas chromatography - mass spectrometry, Alan Liss, N York

    Google Scholar 

  26. Kaback MM (ed) (1977): Tay-Sachs disease, screening and prevention, Alan Liss, N.York

    Google Scholar 

  27. WHO reports on the Comments Control of Hereditary Anemias (1983 a,b), WHO Geneva

    Google Scholar 

  28. Kuliev A, Modell B and Galjaard H (1985): Perspectives in fetal diagnosis of congenital disorders, WHO/Serono Symposium, Serono Symp Reviews, Rome

    Google Scholar 

  29. Emery AEH and Rimoin DL (1983): Principles and practice of medical genetics, Vols 1 and 2, Churchill Livingstone, Edingburgh

    Google Scholar 

  30. Bickel H and Guthrie R and Hammersen G (eds) (1980): Neonatal screening for inborn errors of metabolism, Springer, Berlin

    Google Scholar 

  31. Harper PS (1984): Practical Genetic Counseling, 2nd ed Wright, Bristol

    Google Scholar 

  32. Kaback MM, Zippen D, Boyd P and Cantor R (1984): Reproductive behaviour of families with CF children In: Cystic fibrosis: horizons. D Lawson (ed), pp 15–28, J Wiley

    Google Scholar 

  33. Bennett MJ and Campbell S (eds) (1980): Real-time ultrasound in obstetrics, Oxford

    Google Scholar 

  34. Milunsky A, Gluck L and Friedman E (eds) (1981): Advances in perinatal medicine. Plenum, N York

    Google Scholar 

  35. Milunsky A (ed) (1979): Genetic disorders and the fetus, Plenum Press, N York

    Google Scholar 

  36. Tabor A, Madsen M. Obel EB, Philip J, Bang J, Norgaard-Pedersen B (1986): Randomized controlled trial of genetic amniocentesis in 4606 low-risk women, Lancet, i 1287–1292

    Article  Google Scholar 

  37. Fraccaro M, Simoni G and Brambati B (eds) (1985): First trimester fetal diagnosis. Springer, Berlin/N York

    Google Scholar 

  38. Galjaard H and Kleijer WJ (1985): Biochemical analysis of chorionic villi. In: Chorionic villus biopsy: fetal diagnosis of genetic diseases in the first trimester. Brambati B, Simoni G and Fabro S (eds), pp 131–152, Marcel Dekker Inc, N York

    Google Scholar 

  39. Jahoda MGJ, Vosters RPL, Sachs ES and Galjaard H (1985): Safety of chorionic villus sampling, Lancet ii 941–942

    Article  Google Scholar 

  40. Bakker F, Hofker MH, Goor N, Mandel JL, Davies KE et al. (1985): Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLP’s, Lancet i 655–658

    Article  Google Scholar 

  41. Weatherall DJ (1985): The new genetics and clinical practice, 2nd ed The Nuffield Provincial Hosp Trust, London

    Google Scholar 

  42. Prechtl HFR and others (1985): Ultrasound studies of human fetal behaviour. Special issue of early human development, Vol 12 Nr 2, pp 91–209

    Google Scholar 

Download references

Authors
  1. H. Galjaard
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Cell Biology and Genetics, Erasmus University of Rotterdam, The Netherlands

    H. Galjaard

  2. Department of Developmental Neurology, University Hospital Groningen, The Netherlands

    H. F. R. Prechtl

  3. Vrazov trg. 1, Ljubljana, Yugoslavia

    M. Veličkovič

Rights and permissions

Reprints and permissions

Copyright information

© 1987 Martinus Nijhoff Publishers, Dordrecht.

About this chapter

Cite this chapter

Galjaard, H. (1987). Early Diagnosis and Prevention of Genetic Disease. In: Galjaard, H., Prechtl, H.F.R., Veličkovič, M. (eds) Early Detection and Management of Cerebral Palsy. Topics in the Neurosciences, vol 6. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-3333-0_3

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-3333-0_3

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-7997-6

  • Online ISBN: 978-94-009-3333-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation