Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Parkinsonism Relat Disord. 2018 Feb;47:80-83. doi: 10.1016/j.parkreldis.2017.12.008. Epub 2017 Dec 9.
LRRK2 gene mutations underlie the most common mendelian form of Parkinson's Disease (PD), designated PARK8, that shows clinical features similar to those in idiopathic PD (IPD). We assessed the cognitive functions and the cerebral metabolism measured with 18F-fluorodeoxyglucose (FDG)-PET in PARK8 patients compared with IPD.
We enrolled eight PARK8 patients and eight IPD patients, comparable for onset age, stage, severity and duration of disease. Mean age ± SD was 61.8 ± 10.9 years and disease duration 8.4 ± 5.8 in PARK8, and 61.4 ± 14.7 and 7.0 ± 4.8 in IPD. All subjects underwent a wide neuropsychological assessment and a FDG-PET. Cerebral regional relative metabolic maps were evaluated using voxel-based analysis with statistical parametric mapping.
Motor and non-motor phenotype and neuropsychological evaluation did not differ between PARK8 and IPD. We detected one case of dementia and four of Mild Cognitive Impairment in each group. At FDG-PET, compared to controls, IPD patients revealed a significant relative posterior cortical hypometabolism in the left temporal and inferior parietal and in the right inferior and superior parietal regions, whereas patients with LRRK2 mutation, at a less conservative threshold, showed only a relative left inferior parietal hypometabolism. No differences were found between patients with PARK8 and IPD.
The results confirm a comparable cognitive profile between LRRK2 and IPD patients. FDG-PET study showed a pattern of posterior cortical hypometabolism in both groups, although less severe in LRRK2-related PD. The milder decrease of cortical metabolism in PARK8 might be due to a less marked pathological involvement compared to IPD.
LRRK2 基因突变是最常见的常染色体显性遗传帕金森病（PD）的病因，被称为 PARK8，其临床表现与特发性 PD（IPD）相似。我们评估了 PARK8 患者与 IPD 患者的认知功能和用 18F-氟脱氧葡萄糖（FDG）-PET 测量的大脑代谢。
我们招募了 8 名 PARK8 患者和 8 名 IPD 患者，他们在发病年龄、疾病分期、严重程度和病程方面具有可比性。PARK8 患者的平均年龄 ± 标准差为 61.8 ± 10.9 岁，疾病病程为 8.4 ± 5.8 年；IPD 患者的平均年龄 ± 标准差为 61.4 ± 14.7 岁，疾病病程为 7.0 ± 4.8 年。所有受试者均接受了广泛的神经心理学评估和 FDG-PET。使用基于体素的分析和统计参数映射评估脑区相对代谢图。
运动和非运动表型以及神经心理学评估在 PARK8 和 IPD 之间没有差异。我们在每组中发现了 1 例痴呆和 4 例轻度认知障碍。与对照组相比，IPD 患者在 FDG-PET 上显示左侧颞叶和下顶叶以及右侧下顶叶和上顶叶区域的皮质相对代谢低下，而 LRRK2 突变患者在较低的保守阈值下仅显示左侧下顶叶相对代谢低下。PARK8 和 IPD 患者之间没有差异。
结果证实 LRRK2 和 IPD 患者的认知特征相似。FDG-PET 研究显示两组均存在皮质后部代谢低下，但在 LRRK2 相关 PD 中较为轻微。与 IPD 相比，PARK8 中皮质代谢下降较轻可能是由于病理受累程度较轻。
