Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

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Abstract
An account is given of the clinical picture and the course of 51 cases of myoclonic-astatic petit mal of the centrencephalic type and of family studies designed to investigate the genetics of this form of epilepsy. The clinical picture of myoclonic-astatic petit mal of the centrencephalic type is characterized by primarily generalized seizures: myoclonic and astatic seizures, often in combination with absences, tonic-clonic grand mal, and tonic convulsions. Boys are effected more than girls. The onset of the illness takes place between the first and the fifth year of age, usually in the third and fourth years. Primary organic brain lesions are rare. The EEG shows bilateral synchronous irregular and regular 2 to 3 per second spikes and waves and spike wave variants. The background activity usually exhibits marked abnormal theta rhythms. The course of the disease is generally unfavourable. In most cases dementia develops. Systematic investigation of the close family (siblings, parents, parents' siblings, grandparents) showed a morbidity for cerebral seizures of 12.6% among the siblings and 7.1% among the parents. The EEG contained clear pathological changes in 46% of 72 proband' siblings and 14% of 69 parents. Taking historical and electroencephalographical data together, clear evidence of a familial disposition to convulsive disease was found in 34 families (68%). This figure rose to 40 families (80%) when cases were included in which seizures were reported only in the more distant familiy. Myoclonic-astatic petit mal of the centrencephalic type in distinguished as a nosological entity in its own right and assigned to the group of primarily generalized centrencephalic epilepsies. In der vorliegenden Arbeit werden anhand von 51 Fällen das klinische Bild und der Verlauf des myoklonischastatischen Petit ma1 zentrenzephalen Typs dargestellt und šber Familienuntersuchungen zur Genetik dieser Epilepsieform berichtet.

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