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Genetic Studies of Acute Werdnig-Hoffmann Disease

Published online by Cambridge University Press:  01 August 2014

J.H. Pearn
J.H. Pearn*
Affiliation:
Muscular Dystrophy Laboratories, Newcastle General Hospital, Newcastle upon Tyne, Great Britain
*
Muscular Dystrophy Laboratories, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne NE4 6BE, Great Britain

Abstract

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A large genetic survey of all infantile and childhood spinal muscular atrophies has been undertaken. Two large series have been studied, one consecutive series of 160 patients presenting to the Hospital for Sick Children, London, and approximately 60 patients from the Muscular-Dystrophy-Group Research Laboratories, Regional Neurological Centre.

Using the techniques of sibling-sibling correlation it has been shown for the first time that the acute fatal infantile form (classical acute Werdnig-Hoffmann disease) is a distinct genetic entity. It is then possible by such genetic techniques to define accurately the clinical syndrome.

Implications for genetic counselling are discussed. Gene frequency studies have been undertaken from this research project and it is now known that the carrier rate for the acute Werdnig-Hoffman disease gene is in the range 1:60 to 1:90 in the British population.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 241 - 243
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Beevor, C.E. 1902. A case of congenital spinal muscular atrophy (fami ly type), and a case of haemorrhage into the spinal cord at birth, giving similar symptoms. Brain, 25: 85–108.Google Scholar
Brackenridge, C.J. 1972. Familial correlations for age at onset and age at death in Huntington's disease. J. Med. Genet., 9: 23–32.Google Scholar
Bundey, S., Carter, C.O. 1972. Genetic heterogeneity for dystrophia myotonica. J. Med. Genet., 9: 311–315.Google Scholar
Carter, C.O. 1972. Director, M.R.C. Clinical Genetics Unit, The Institute of Child Health, London. Personal communication.Google Scholar
Emery, A.E.H. 1971. Review: The nosology of the spinal muscular atrophies. J. Med. Genet., 8: 481–495.Google Scholar
Haldane, J.B.S. 1941. The relative importance of principal and modifying genes in determining some human diseases. J. Genet., 41: 149–157.CrossRefGoogle Scholar
Pearn, J.H. 1973. Fetal movements and Werdnig-Hoffmann disease, J. Neurol. Sci., 18: 373–379.Google Scholar