青少年型帕金森综合征一个家系的临床及遗传学分析

目的　认识和了解中国常染色体隐性遗传青少年型帕金森综合征(AR JP)的临床特点及parkin基因突变特点。方法　对1个中国AR JP家系2例患者的临床资料进行回顾性分析,同时应用PCR 单链构象多态性技术(PCR SSCP)结合DNA序列分析方法进行parkin基因突变分析。结果　2例AR JP患者发病年龄早,均在30岁以前,病程较长,临床表现有静止性震颤、肌强直和运动迟缓、姿势不稳,但无足肌张力障碍、睡眠后症状减轻、腱反射活跃或亢进,均对多巴制剂反应明显,1例出现症状波动,出现不良反应的时间大均为1年;对2例AR JP患者进行parkin基因突变检测,12个外显子均可扩出。在第2外显子上发现异常SSCP电泳条带,经测序证实为一个杂合的2个碱基缺失突变(第2外显子202 203delAG)。结论　中国AR JP患者临床表现与日本AR JP患者不同,而与中老年帕金森病相似;存在parkin基因的突变。

The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family

Objective To understand clinic and genetic characteristics of Chinese AR-JP. Methods The clinical dates of 1 Chinese AR-JP family was collected and analysed. Genomic DNA was extracted by standard techniques from venous blood leukocytes of members in three women of the family, polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) analysis and DNA sequencing were used to detect mutation of parkin gene. Results Onset age of 2 Chinese AR-JP patients is young, periods of disease is long, clinical manifestion include: resting tremor, rigidity, bradyskinesias, distablity,a good response to levodopa, but early levodopa induced symptom fluctuation; but no hyperactive tendon reflexes, sleep benefit,and foot dystonia. Parkin mutation analysis in 2 patients of the family discovered abnormal SSCP electrophoresis band, by DNA examination,conformed 2 base deletion mutation(exon 2 202-203delAG). Conclusions Clinical features of Chinese AR-JP parients are different with Japaese AR-JP, similar with late-onset Parkinson disease; ourstudy detected a parkin mutation (exon 2 202-203del AG), conform mutation of parkin gene is a cause of AR-JP in Chinese.