家族性发作性运动诱发性运动障碍六个家系的临床及遗传特点分析  

Clinical and genetic analysis of six families of paroxysmal kinesigenic dyskinesia

作　　者：周瑾瑕[1] 李国良[1] 刘鼎[1] 陈婵娟[1] 章蓓[1] 吴志国[1] 肖波[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中华神经科杂志》2006年第11期726-729,共4页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目(30571020)

摘　　要：目的探讨发作性运动诱发性运动障碍（paroxysmal kinesigenic dyskinesia，PKD）的临床特征及遗传特点。方法对6个中国汉族PKD家系共122名成员进行随访，包括患者26例，总结分析其临床表现、遗传特点、辅助检查及预后。结果本组6个家系共有患者26例，其中男性18例，女性8例（男：女=2．25：1）。患者发病年龄为4～30岁，均以突然运动诱发，表现为肢体的不能控制的肌张力障碍、舞蹈、投掷样动作等，每次发作约持续几秒到十几秒，持续时间最长不超过1min，平均每天发作数次，不伴意识障碍。神经系统检查、脑电图、头颅影像学检查等均无阳性发现。多数患者可自然缓解，抗癫痫药物治疗有效。6个家系中4个家系有连续2代以上发病，符合常染色体显性遗传；2个家系只有一代患者，且均为同胞兄弟／姐妹，符合常染色体隐性遗传。通过家系内比较，发现4个显性遗传家系均有子代较父代发病年龄提前、发作频率增加、病程延长等现象，提示存在遗传早现（anticipation）。结论PKD是一种神经系统的常染色体遗传病，既有显性遗传又有隐性遗传，具有遗传和临床异质性（heterogeneity）。中国汉族人群中显性遗传的PKD家系存在遗传早现现象。Objective To study the clinical and genetic features of familial paroxysmal kinesigenic dyskinesia （PKD）. Methods 122 members in 6 Chinese pedigrees were followed up, including 26 patients. Clinical information was analyzed. Results There were 26 patients in the 6 pedigrees, including 18 males and 8 females （ M： F = 2.25：1 ）. All of the patients appeared involuntary choreic, dystonic or ballistic movements always induced by sudden movements, lasting for several seconds without loss of consciousness. These manifestations could be relieved naturally or by antiepileptic drugs. Physical examinations and laboratory exams were not abnormal. The genetic inheritance showed not only autosomal dominant （AD）, but also autosomal recessive （AR）. Through analysis, we found that in the 4 AD pedigrees, the onset age was earlier and the severity was increasing in the subsequent generations, which suggested genetic anticipation. Conclusions PKD is a clinically and genetically heterogeneous neurogenerative disorder, it can be inherited in an AD or an AR mode. It also probably has genetic anticipation in Chinese pedigrees.

关 键 词：运动失调 系谱 遗传异质性 

分 类 号：R741[医药卫生—神经病学与精神病学]