FAME 3: A NOVEL FORM OF PROGRESSIVE MYOCLONUS AND EPILEPSY

Abstract

We read the article by Carr et al. describing two families with an autosomal dominant form of progressive epilepsy characterized by generalized tonic-clonic seizures, myoclonus, and associated neurologic features.1 The authors included this condition within the spectrum of familial cortical tremor, myoclonus, and epilepsy, a genetically heterogeneous syndrome reported worldwide with different acronyms (FAME, BAFME, FCTME).2 Familial cortical tremor, myoclonus, and epilepsy is a homogeneous clinical condition characterized by the association of cortical tremor, myoclonus, and generalized seizures with benign course.2–4 Despite the presence of affected members with partial seizures and slight mental retardation, autosomal dominant cortical myoclonus and epilepsy5 shows an overlapping symptomatology and is considered within the clinical spectrum of FAME as confirmed by the allelism between these two conditions.2 Electrophysiologically, FAME is characterized by normal or slightly slowed EEG background activity and generalized paroxysmal abnormalities especially in untreated patients. In addition, electrophysiologic studies show cortical reflex myoclonus.2 Brain MRI is generally unremarkable and neuropathologic …