Department of Neurology, Konkuk University Hospital, Seoul, Korea.
J Neurol. 2011 Dec;258(12):2260-7. doi: 10.1007/s00415-011-6110-1. Epub 2011 May 29.
The data regarding whether parkin genotype attributes phenotypic variation are conflicting. Since the incidence of parkin mutations is very low in patients with an age at onset (AAO) of >40 years, previous studies have unfairly compared phenotypes of two early onset Parkinson's disease (EOPD) groups with different AAOs. Thus, we compared the clinical features between patients with and without parkin mutations in EOPD with an AAO of ≤40 years. Of the 124 patients with EOPD with an AAO of ≤40 years who were recruited and screened for parkin mutations, 84 completed assessments for comparison of the phenotype according to parkin genotype. Fourteen of the 84 subjects carried two parkin mutations; 6, a single mutation; and 64, no mutations. Patients with two mutations had significantly younger AAOs, longer duration of PD, and more common family history than patients without parkin mutations. Otherwise, motor and nonmotor symptoms did not differ between them. Subgroup analysis of EOPD with an AAO of ≤35 years revealed similar results. Phenotype of EOPD may depend on early AAOs rather than presence of parkin mutations.
Parkin 基因型是否会导致表型变异的数据存在争议。由于发病年龄（AAO）大于 40 岁的患者中 parkin 突变的发生率非常低，因此之前的研究不公平地比较了具有不同 AAO 的两个早发性帕金森病（EOPD）组的表型。因此，我们比较了发病年龄≤40 岁的 EOPD 患者中有无 parkin 突变的临床特征。在招募并筛选 parkin 突变的 124 名发病年龄≤40 岁的 EOPD 患者中，84 名完成了表型比较的评估，根据 parkin 基因型进行评估。84 名患者中有 14 名携带两种 parkin 突变，6 名携带一种突变，64 名无突变。与无 parkin 突变的患者相比，携带两种突变的患者 AAO 明显更年轻，PD 持续时间更长，家族史更常见。除此之外，他们的运动和非运动症状没有差异。≤35 岁的 EOPD 亚组分析也得出了类似的结果。EOPD 的表型可能取决于早发性 AAO，而不是 parkin 突变的存在。
