Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York2Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York.
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York.
JAMA Neurol. 2014 Jan;71(1):62-7. doi: 10.1001/jamaneurol.2013.4498.
Data on the long-term cognitive outcomes of patients with PARKIN-associated Parkinson disease (PD) are unknown but may be useful when counseling these patients.
Among patients with early-onset PD of long duration, we assessed cognitive and motor performances, comparing homozygotes and compound heterozygotes who carry 2 PARKIN mutations with noncarriers.
DESIGN, SETTING, AND PARTICIPANTS: Cross-sectional study of 44 participants at 17 different movement disorder centers who were in the Consortium on Risk for Early-Onset PD study with a duration of PD greater than the median duration (>14 years): 4 homozygotes and 17 compound heterozygotes (hereafter referred to as carriers) and 23 noncarriers.
Unified Parkinson Disease Rating Scale Part III (UPDRS-III) and Clinical Dementia Rating scores and neuropsychological performance. Linear regression models were applied to assess the association between PARKIN mutation status and cognitive domain scores and UPDRS-III scores. Models were adjusted for age, education, disease duration, language, and levodopa equivalent daily dose.
Carriers had an earlier age at onset of PD (P < .001) and were younger (P = .004) at time of examination than noncarriers. They performed better than noncarriers on the Mini-Mental State Examination (P = .010) and were more likely to receive lower scores on the Clinical Dementia Rating (P = .003). In multivariate analyses, carriers performed better than noncarriers on the UPDRS-III (P = .02) and on tests of attention (P = .03), memory (P = .03), and visuospatial (P = .02) cognitive domains.
In cross-sectional analyses, carriers demonstrated better cognitive and motor performance than did noncarriers with long disease duration, suggesting slower disease progression. A longitudinal follow-up study is required to confirm these findings.
关于伴 PARKIN 基因突变帕金森病（PD）患者的长期认知结局的数据尚不清楚，但在为这些患者提供咨询时可能会有用。
在早期发病且 PD 持续时间较长的患者中，我们评估了认知和运动表现，比较了携带 2 个 PARKIN 突变的纯合子和复合杂合子与非携带者。
设计、地点和参与者：这是一项在 17 个不同的运动障碍中心进行的横断面研究，共有 44 名患者参加了早发性 PD 风险联合会研究，PD 持续时间超过中位数（>14 年）：4 名纯合子和 17 名复合杂合子（以下简称携带者）和 23 名非携带者。
采用统一帕金森病评定量表第 3 部分（UPDRS-III）和临床痴呆评定量表评分和神经心理学表现。线性回归模型用于评估 PARKIN 突变状态与认知域评分和 UPDRS-III 评分之间的关联。模型调整了年龄、教育程度、疾病持续时间、语言和左旋多巴等效日剂量。
携带者的 PD 发病年龄更早（P<0.001），且在检查时比非携带者更年轻（P=0.004）。他们在简易精神状态检查（P=0.010）中的表现优于非携带者，且更有可能获得较低的临床痴呆评定量表评分（P=0.003）。在多变量分析中，携带者在 UPDRS-III 评分（P=0.02）和注意力测试（P=0.03）、记忆测试（P=0.03）和视空间测试（P=0.02）中的表现优于非携带者。
在横断面分析中，携带 2 个 PARKIN 突变的患者表现出比非携带者更好的认知和运动表现，这表明疾病进展更慢。需要进行纵向随访研究来证实这些发现。
