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Genetic Counseling in Neurology

Published online by Cambridge University Press:  01 August 2014

P. Dodinval
P. Dodinval*
Affiliation:
Service de Génétique Humaine, Université de Liège, Belgique
*
Service de Génétique Humaine, Université de Liège, 40 quai G. Kurth, 4000-Liège, Belgium

Abstract

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This review deals with CNS troubles and anomalies (excluding mental defects and oligophrenia, as well as primary muscular degenerations), that account for approximately 25 percent of all cases of genetic counseling in our material.

From a genetic-counseling perspective, CNS affections may be easily classed as follows: (1) congenital malformations; (2) monofactorial Mendelian affections; (3) diseases with a possibly hereditary disposition (e.g., arthrogryposis); (4) infant cerebral palsies; and (5) epilepsies.

In our own material, CNS congenital malformations account for approximately 60 percent of all cases of neurologic genetic counseling, whereas Mendelian affections account for only 20 percent and epilepsies for 15 percent. They mainly include cases of hydrocephaly, anencephaly, spina bifida, and microcephaly, for which the recurrence risk is mostly empirical. Emphasis is laid on the present possibilities of prenatal detection of some of these malformations.

Type
2. Genetic Counseling and the Detection of Carriers in Neurology
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 59 - 81
Copyright
Copyright © The International Society for Twin Studies 1974

References

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