Summary
From a family with essential familial myoclonus, 150 members in eight generations were studied. Twenty-five of them suffered from myoclonus of varying severity. The findings in routine examinations of blood, urine and cerebrospinal fluid, EEG and skull radiographs were normal. Therapeutic trials did not produce lasting satisfactory results. The most promising results were obtained with 5-hydroxytryptophan therapy. Haloperidol worsened the symptoms, while alcohol produced a striking improvement. It is suggested that serotoninergic neurons in the brain could be involved in the triggering of essential myoclonus.
Zusammenfassung
Wir haben 150 Mitglieder einer Familie mit einer familiären essentiellen Myoklonie über acht Generationen untersucht. 25 Familienmitglieder wiesen eine Myoklonie mit unterschiedlicher Ausprägung auf. Die Routineuntersuchung von Blut, Serum, EEG und Röntgen-Schädel ergab keine Normabweichung. Die medikamentösen Therapieversuche waren über längere Zeit nicht zufriedenstellend. Am ehesten erwies sich noch 5-Hydroxytryptophan als günstig. Haloperidol verschlechterte die Symptome. Alkohol war am wirkungsvollsten und jeglicher Medikation überlegen. Es erscheint möglich, daß eine Schädigung der serotoninergen Hirnstammneurone das Auftreten der Myoklonien mitbedingen könnte.
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Przuntek, H., Muhr, H. Essential familial myoclonus. J Neurol 230, 153–162 (1983). https://doi.org/10.1007/BF00313626
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DOI: https://doi.org/10.1007/BF00313626