Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
J Int Neuropsychol Soc. 2011 Jan;17(1):91-100. doi: 10.1017/S1355617710001190. Epub 2010 Nov 24.
The cognitive profile of early onset Parkinson's disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson's disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study.
早发性帕金森病（EOPD）的认知特征尚未明确界定。Parkin 基因突变是 EOPD 最常见的遗传风险因素，可能为有症状和无症状突变携带者的神经心理表现模式提供信息。对 Parkin 基因突变的 EOPD 先证者及其无帕金森病（PD）的一级亲属进行基因分型，并进行全面的神经心理学测试。将 EOPD 先证者中（N = 43）和没有（N = 52）Parkin 突变的患者的表现进行比较。对 217 名一级亲属进行相同的神经心理学测试，以评估携带 Parkin 突变但没有 PD 的个体的神经心理学功能。携带 Parkin 突变的先证者和非携带者之间的神经心理学测试表现没有显著差异。EOPD 非携带者和携带者亚组（即杂合子、复合杂合子/纯合子）之间的表现也没有差异。同样，在不同基因型的未受影响的家庭成员中也没有发现差异。所有先证者和亲属的平均神经心理学测试表现均在正常范围内。无论是否患有 PD，Parkin 突变携带者在神经心理学测量上的表现与非携带者没有差异。Parkin 携带者的认知功能随时间推移需要进一步研究。
