Neurology Service, University Hospital, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil.
Neurology Department, USP Ribeirão Preto, Ribeirão Preto, Brazil.
Pract Neurol. 2020 Dec;20(6):479-481. doi: 10.1136/practneurol-2020-002590. Epub 2020 Sep 29.
A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington's disease were negative but were positive for Huntington's disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.
一位 67 岁的巴西裔男性和他 60 岁的姐姐都出现了舞蹈样运动，尽管在该男子中，这些运动被明显的帕金森症所掩盖。该男子还有四次癫痫发作的病史。在每个人的神经检查中还发现了缓慢的眼球运动和执行功能障碍综合征。亨廷顿病的基因检测为阴性，但亨廷顿病样 2 的基因检测为阳性。舞蹈病有多种遗传病因，正确识别对于适当的临床管理和遗传咨询非常重要。
