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Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

Abstract

THE childhood-onset spinal muscular atrophies (SMAs) describe a heterogeneous group of disorders that selectively affect the alpha motoneuron. We have shown that chronic childhood-onset SMA (SMA II and III) maps to a single locus on chromosome 5q (ref. 1). Acute SMA (SMA Type I/Werdnig-Hoffmann/severe/infantile) is the main cause of heritable infant mortality. Mapping the acute SMA locus by conventional methods is complicated by the rapidly fatal course of the disease and its recessive mode of inheritance. We present here the typing of four inbred acute-SMA families with DNA markers on chromosome 5q and analysis of these together with acute families from our previous study1 to demonstrate genetic homogeneity between the acute and chronic forms of SMA. The data indicate that the acute SMA locus maps to chromosome 5q11.2–13.3. Two families seem unlinked to 5q markers, raising the possibility of genetic heterogeneity or disease misclassification within the acute and chronic family sets.

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References

  1. Brzustowicz, L. M. et al. Nature 344, 540–541 (1990).

    Article  ADS  CAS  Google Scholar 

  2. Pearn, J. H. in Advances in Neurology (ed. Rowland, L. P.) 36, 121–130 (Raven, New York, 1982).

    Google Scholar 

  3. Emery, A. E. H., Davie, A. M., Holloway, S. & Skinner, R. J. neurol. Sci. 30, 375–394 (1976).

    Article  CAS  Google Scholar 

  4. Munsat, T. L., Woods, R., Foeler, W. & Pearson, C. M. Brain 92, 9–24 (1969).

    Article  CAS  Google Scholar 

  5. Dubowitz, V. Muscle Disorders in Childhood 146–178 (Saunders, London and Philadelphia, 1978).

    Google Scholar 

  6. Brooke, M. H. in A Clinicians View of Neuromuscular Diseases 2nd edn 36–80 (Williams and Wilkins, London, 1985).

    Google Scholar 

  7. Pearn, J. H. J. med Genet. 10, 260–265 (1973).

    Article  CAS  Google Scholar 

  8. Smith, C. A. B. J.R. Stat. Soc. B 15, 153 (1953).

    Google Scholar 

  9. Lander, E. S. & Botstein, D. Science 236, 1567–1570 (1987).

    Article  ADS  CAS  Google Scholar 

  10. Ott, J. Analysis on Human Genetic Linkage (Johns Hopkins University Press, Baltimore 1985).

    Google Scholar 

  11. Pearn, J. J. med. Genet. 15, 409–413 (1978).

    Article  CAS  Google Scholar 

  12. Winsor, E. J., Murphy, E. G., Thompson, M. W. & Reed, T. E. J. med. Genet. 8, 143–148 (1971).

    Article  CAS  Google Scholar 

  13. Dubowitz, V. Colour Atlas of Muscle Disorders in Childhood 66–86 (Year Book Medical Publishers, Chicago, 1989).

    Google Scholar 

  14. Lathrop, G. M., Lalouel, J. M., Julier, C. & Ott, J. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).

    Article  ADS  CAS  Google Scholar 

  15. Keats, B., Ott, J., & Conneally, M. Cytogenet. Cell Genet. 51, 459–502 (1989).

    Article  CAS  Google Scholar 

  16. Leppert, M. et al. Science 238, 1411–1413 (1987).

    Article  ADS  CAS  Google Scholar 

  17. Gilliam, T. C. et al. Genomics 5, 940–944 (1989).

    Article  CAS  Google Scholar 

Download references

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Gilliam, T., Brzustowicz, L., Castilla, L. et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345, 823–825 (1990). https://doi.org/10.1038/345823a0

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