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The Detection of Carriers in Hereditary Myoclonic Epilepsy

Published online by Cambridge University Press:  01 August 2014

M. Bruce Sarlin ,
H. Warner Kloepfer ,
Walter A. Mickle  and
Robert G. Heath
M. Bruce Sarlin*
Affiliation:
Tulane University School of Medicine
H. Warner Kloepfer
Affiliation:
Department of Genetics, Tulane University School of Medicine
Walter A. Mickle
Affiliation:
Department of Neurology and Psychiatry, Tulane University School of Medicine
Robert G. Heath
Affiliation:
Department of Neurology and Psychiatry, Tulane University School of Medicine
*
Present address: New York State Psychiatric Institute, 722 West 168 Street, New York 32, New York

Summary

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Three cases of hereditary myoclonic epilepsy have been observed among ten siblings in a Negro family. Electroencephalograms of the parents, three normal siblings and two of the three affected siblings have been recorded and all show abnormalities of a similar type. These are of a generalized nature revealing no focal damage. This type of abnormality has been observed in an affected male and two normal siblings by Watson and Denny-Brown.

The autosomal recessive mode of inheritance observed in the present study is consistent with the transmission most frequently reported in myoclonic epilepsy. We believe that abnormal electroencephalographic patterns are associated with this gene and that these patterns may be useful in the detection of heterozygous carriers.

Riassunto

RIASSUNTO

Su dieci membri di una fratria di una famiglia negra sono stati osservati tre casi di epilessia mioclonica ereditai ia. Sono stati registrati gli EEG dei genitori, di tre siblings normali e di due dei tre siblings affetti e tutti presentano delle anormalità dello stesso tipo. Tali anormalità sono di natura generale e non presentano danni locali. Watson e Denny-Brown hanno osservato questo tipo di anormalità in un maschio affetto ed in due siblings normali.

Il modo di trasmissione autosomico recessivo che è stato osservato in questa ricerca si accorda con il modo di trasmissione più frequentemente osservato nell'epilessia mioclonica. Si pensa che le tracce elcttroencefalografiche anormali siano associate a questo gene e che tali tracce possano essere utili nella ricerca dei portatori eterozigotici.

Résumé

RÉSUMÉ

Trois cas d'épilepsie myoclonique héréditaire ont été observés parmi 10 siblings d'une famille nègre. Les EEG des parents, de trois siblings normaux et de deux des trois siblings atteints ont été étudiés: tous présentent des abnormalités similaires. Ces dernières sont d'une nature généralisée, sans troubles locaux. Ce genre d'abnormalité a été observé par Watson et Denny-Brown chez un mâle atteint et deux siblings normaux.

La transmission autosomique récessive observée dans cette recherche s'accorde avec la transmission le plus fréquemment observée pour l'épilepsie myoclonique. Nous croyons que les abnormalités de l'EEG sont associées à ce gène et qu'elles peuvent être utiles dans le dépistage des conducteurs hétérozygotiques.

Zusammenfassung

ZUSAMMENFASSUNG

Drei Fälle von vererblicher myoklonischer Epilepsie werden unter 10 neger Siblings beobachtet. Die EEG der Eltern, und von drei normalen Siblings und zwei der drei behaftete Siblings werden untersucht: alle zeigen ähnlichen Abnormalitäten. Diese sind allgemeinen, mit keinem örtlichen Leid. Diese Art Abnormalität wird bei Watson und Denny-Brown in einem männlichen behaftetem und zwei normalen Siblings beobachtet.

Die in dieser Untersuchung beobachtete rezessive autosomische Art Vererbung stimmt mit der in myoklonischer Epilepsie häufigst beschriebener Art Vererbung. Wir glauben dass das abnormales EEG mit diesem Gen in Verbindung steht, und dass dieses nütztlich sein kann um heterozygotischen Träger aufzudecken.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 9 , Issue 4 , October 1960 , pp. 466 - 471
Copyright
Copyright © The International Society for Twin Studies 1960

References

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