Abstracts

RATIONALE: Clinically, familial adult myoclonic epilepsy (FAME) is defined by an autosomal dominant inheritance pattern, adult onset myoclonus, rare generalized tonic-clonic seizures and a nonprogressive course. Generalized spike or polyspike and wave complexes are seen on electroencephalography (EEG). Fatigue, insomnia, repetitive photic stimulation and stress have all been reported to precipitate the myoclonus. The geographic distribution of these families was recently expanded to include cases in Europe in addition to the originally identified Japanese families. Linkage analyses in the European kindred excluded the genetic locus for FAME that had previously been identified (8q23.3-q24.1), thus confirming the genetic heterogeneity of the syndrome.
Objective: To study the clinical and electrophysiologic characteristics of a North American family with FAME.
METHODS: A three-generation North American family with four symptomatic members is described. We report the clinical and EEG findings from two affected members.
RESULTS: All of the symptomatic members of this family met clinical criteria for the diagnosis of FAME. Pedigree analysis suggested autosomal dominant inheritance. In each case, the onset of myoclonus occurred during the fourth decade. Each patient also had rare generalized tonic-clonic seizures. Prolonged EEG monitoring on two members documented generalized spike or polyspike and wave ictal discharges. Fatigue, photic stimulation and eye closure were all confirmed as precipitants of myoclonic seizures during the EEG monitoring.
CONCLUSIONS: The geographic occurrence of families with FAME can now be extended to include North America. This is the first report of eye closure acting as a seizure precipitant in this group of patients.