[Paroxysmal, kinesigenic choreoathetosis. (2 cases in a family)]

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.