The first description of a family showing tremulous movement associated with myoclonic jerks and generalized seizures was provided by Uyama and colleagues in 1985 [1]. In this description, no other neurological nor neuroradiological abnormalities were identified and all the patients showed a cortical reflex myoclonus as demonstrated by the electrophysiological assessment. Subsequently, four additional unrelated families, including a total of 27 individuals, with similar symptoms were described [2].
24
MAR
MAR
0