Bortolotti P, Cavalli M, Marzolini S
Riv Patol Nerv Ment. 1982 Jan-Feb;103(1):13-20.
Paroxysmal kinesigenic choreoathetosis is a rare disease of unknown origin, considered by some authors a reflex epilepsy, by some an extrapyramidal disorder and related recently to brainstem atrophy. Two patients, father and son, aged 52 and 22 years, are described suffering from this disease starting at age 40 and 13. In both patients the attacks consisted in slow flexion and extention movements starting in the foot and extending to the knee and the arm and were usually monolateral, but in the son some attacks were bilateral causing him to fall and involved also face muscles. In both patients neuroradiological investigations were normal. Neurophysiological studies including blink reflex, short latency somatosensory evoked potentials and brainstem acoustic evoked potentials did not show any involvement of the brainstem. In one case carbamazepine therapy, at low dosage, was tried and cured the patient.
发作性运动诱发性舞蹈手足徐动症是一种病因不明的罕见疾病，一些作者认为它是一种反射性癫痫，另一些人则认为是锥体外系疾病，最近又与脑干萎缩有关。本文描述了两名患者，父子俩，年龄分别为52岁和22岁，分别在40岁和13岁时开始患此病。两名患者的发作均表现为从足部开始的缓慢屈伸运动，并延伸至膝盖和手臂，通常为单侧发作，但儿子的一些发作是双侧的，导致他摔倒，且面部肌肉也受累。两名患者的神经放射学检查均正常。包括眨眼反射、短潜伏期体感诱发电位和脑干听觉诱发电位在内的神经生理学研究未显示脑干有任何受累。在一例患者中，尝试了低剂量的卡马西平治疗并治愈了该患者。
