目的探讨1个常染色体隐性遗传早发性帕金森病(autosomal recessive early-onset parkinsonism,AREP)家系的临床特征及parkin基因突变情况。方法对1个AREP家系2例患者的临床资料进行回顾性分析,同时应用DNA直接测序、限制性内切酶酶切、荧光半定量PCR等技术方法进行parkin基因的突变分析。结果该家系共2例患者,发病年龄轻,分别为22岁和23岁;病情进展相对缓慢,症状有波动,呈晨轻暮重,腱反射活跃;对小剂量多巴制剂反应良好。基因突变发现该家系存在parkin基因的复合杂合突变(第7号外显子杂合的G859T和第4外显子杂合缺失突变),其中G859T为新报道的点突变。结论我国的AREP家系有帕金森病的一般临床表现,又有其独特的临床特征,存在parkin基因的突变。 Objective To investigate the clinical features and the mutation of parkin gene in an autosomal recessive early-onset parkinsonism (AREP) pedigree. Methods The clinical data of 2 patients with one AREP pedigree were retrospectively analyzed, and the mutation of parkin gene was analyzed by direct DNA sequencing, restriction endonuclease digestion and semi-quantitative PCR. Results There were 2 patients in this pedigree with mild onset age of 22 and 23 years old respectively. The progression of the disease was relatively slow and the symptoms fluctuated with morning glory and severe dorsal reflex. The response to low dose of dopa was good. The gene mutation found that there was a compound heterozygous mutation of parkin gene in this pedigree (missense mutation of G859T and exon 4 of exon 7), of which G859T was a newly reported point mutation. Conclusions Our country’s AREP family has the general clinical manifestations of Parkinson’s disease, and has its unique clinical features, there is a mutation of parkin gene.