家族性发作性运动诱发性运动障碍家系的遗传早现现象研究

Anticipation in familial pure paroxysmal kinesigenic dyskinesia

目的探讨家族性发作性运动诱发性运动障碍(PKD)的遗传早现现象。方法将本研究采集的家系及通过文献检索到资源完整的家系分为中国单纯型PKD组、中国复杂型PKD组、国外单纯型PKD组及国外复杂型PKD组,分别对4组PKD家系进行临床分析和发病年龄的配对t检验和Wilcoxon符号秩和统计学分析。结果临床表型上,中国单纯型PKD家系均存在发病年龄逐代提前和(或)严重程度加重的现象,国内外其他PKD家系在临床上未发现明显的遗传早现。统计学上,中国单纯型PKD家系代与代之间的平均年龄差为5.2岁,有显著的统计学差异(配对t检验和Wilcoxon符号秩检验P<0.0001);而复杂型PKD组和国外单纯型PKD组父-子代发病年龄并无显著差异(P>0.01)。结论家族性PKD可分为单纯型和复杂型两种类型,与种族和遗传背景有关。中国单纯型PKD家系存在遗传早现现象,而伴发其他疾病的复杂型PKD在临床和统计学上均未发现遗传早现。

Objective To investigate evidence for anticipation in paroxysmal kinesigenic dyskinesia（PKD）. Methods A total of 16 families were investigated and divided into four groups of pure PKD in China,pure PKD in foreign countries,complicated PKD in China and foreign countries.The onset age of all families formed 68 affected child-parent pairs and were analysed by using a simple generalized paired t-test and a Wilcoxon signed rank test.Results Clinically,only 3 pure PKD families in China showed the phenomenon of progressively earlier and more severe manifestation in successive generations. Statistically, in 68 affected living parent-offspring pairs from 16 families,the mean difference of disease onset in pure PKD in China group was 5.2 years with either statistical analysis（ P 〈0.0001）.However,the onset age differences between parent and offspring generation in complicated PKD and pure PKD in foreign countries group had no statistical significance（ P 〉0.01）.Conclusion Familial PKD could be divided into two types.One is pure PKD,the other is complicated.This study provides the first evidence for anticipation in pure familial paroxysmal kinesigenic dyskinesia. However,complicated PKD showed no phenomenon of anticipation at all.