Clinical anticipation in Japanese families of benign adult familial myoclonus epilepsy

The clinical anticipation in Japanese benign adult familial myoclonus epilepsy (BAFME), defined as earlier onset age of either cortical tremor or generalized seizures or new appearance of those symptoms in the next generation, remains unknown. The onset age and the degree of both cortical tremor and generalized seizures were investigated in nine patients of four BAFME families (mean age: 46.6 +/- 18.7 years). Clinical anticipation in the onset age of cortical tremor or generalized seizures was observed in three families, and generalized seizures newly appeared in the next generation in those two families and in another family. Clinical anticipation was observed in four families, which suggests the clinical progression over generation in Japanese BAFME families.

日本良性成人家族性肌阵挛癫痫（BAFME）的临床预期尚不明确，临床预期定义为皮质震颤或全身性发作的发病年龄提前，或下一代出现这些症状。对4个BAFME家族的9名患者（平均年龄：46.6±18.7岁）的皮质震颤和全身性发作的发病年龄及程度进行了研究。在3个家族中观察到皮质震颤或全身性发作发病年龄的临床预期，在其中2个家族以及另外1个家族中，下一代出现了新的全身性发作。在4个家族中观察到临床预期，这表明日本BAFME家族存在代际临床进展。