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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。
Objective To understand and understand the clinical features of parkinson disease (AR JP) and the characteristics of parkin gene mutation in Chinese autosomal recessive children with Parkinson disease. Methods The clinical data of 2 patients with one Chinese AR JP pedigree were retrospectively analyzed. PCR-SSCP and DNA sequence analysis were used to analyze the mutation of parkin gene. Results Both of the two cases of AR JP had earlier onset, all of them were older than 30 years old. Their clinical manifestations were static tremor, myotonia and bradykinesia, postural instability, but no foot dystonia, alleviation of symptoms after sleeping, tendon Reflex or hyperactivity, both response to dopa was obvious, 1 case of symptoms fluctuated, the time of adverse reactions were 1 year; 2 cases of AR JP parkin gene mutation detection, 12 exons can be expanded Out Abnormal SSCP bands were found on the exon 2, and confirmed to be a heterozygous 2-base deletion mutation (exon 202 203delAG) by sequencing. Conclusions The clinical manifestations of Chinese patients with AR JP are different from those of patients with Japanese AR JP and similar to those of middle-aged and elderly patients. Mutations of parkin gene exist.