Somme Johanne Hatteland, Molano Salazar Ana, Gonzalez Amaia, Tijero Beatriz, Berganzo Koldo, Lezcano Elena, Fernandez Martinez Manuel, Zarranz Juan Jose, Gómez-Esteban Juan Carlos
Department of Neurology, Alava University Hospital, Osakidetza, Spain.
Movement Disorders and Autonomic Unit, Department of Neurology, Cruces University Hospital, Department of Neurosciences, University of the Basque Country, Spain.
Parkinsonism Relat Disord. 2015 May;21(5):494-9. doi: 10.1016/j.parkreldis.2015.02.019. Epub 2015 Mar 2.
To compare the cognitive and psychiatric status of patients with Parkinson's disease related to the G2019S and the R1441G mutations of the LRRK2 gene (LRRK2-PD) and idiopathic Parkinson's disease (iPD) patients.
We examined cognition and psychiatric symptoms in 27 patients with LRRK2-PD (12 G2019S and 15 R1441G) and 27 iPD patients.
The groups were similar in age, education, disease duration, levodopa equivalent daily dose, and Unified Parkinson's Disease Rating Scale (UPDRS) II-IV; however, the LRRK2-PD showed less impairment on UPDRS-I (2.0 ± 1.7 vs. 4.2 ± 2.8, p = 0.003). The LRRK2-PD presented less frequent subjective cognitive complaints (18.5% vs. 63.0%, p = 0.002), and mild cognitive impairment or dementia (25.9% vs. 59.2%, p = 0.027). They also showed less impairment on scales for general cognition (Mattis dementia rating scale 131.2 ± 10.9 vs. 119 ± 24.0, p = 0.022), episodic verbal memory (Rey's auditory verbal learning test, immediate recall 39.2 ± 9.5 vs. 27.6 ± 12.8 p < 0.001, delayed recall 7.2 ± 3.7 vs. 4.7 ± 4.0 p = 0.022), and the Neuropsychiatric Inventory (9.7 ± 9.2 vs. 20.5 ± 14.3, p = 0.004, significant differences for apathy and hallucinations). The LRRK2-PD subjects were less frequently treated with antipsychotic medication (0% vs. 25.9%, p = 0.010). There were no significant differences between G2019S and R1441G mutation carriers.
Mutations of the LRRK2 gene might cause PD associated with less cognitive and neuropsychiatric impairment as compared to iPD.
比较携带富含亮氨酸重复激酶2（LRRK2）基因G2019S和R1441G突变的帕金森病患者（LRRK2-PD）与特发性帕金森病（iPD）患者的认知和精神状态。
我们对27例LRRK2-PD患者（12例G2019S突变型和15例R1441G突变型）和27例iPD患者进行了认知和精神症状检查。
两组患者在年龄、教育程度、病程、左旋多巴等效日剂量和统一帕金森病评定量表（UPDRS）II-IV方面相似；然而，LRRK2-PD患者在UPDRS-I量表上的损伤较轻（2.0±1.7 vs. 4.2±2.8，p = 0.003）。LRRK2-PD患者出现主观认知主诉的频率较低（18.5% vs. 63.0%，p = 0.002），轻度认知障碍或痴呆的发生率也较低（25.9% vs. 59.2%，p = 0.027）。他们在一般认知量表（马蒂斯痴呆评定量表131.2±10.9 vs. 119±24.0，p = 0.022）、情景言语记忆（雷伊听觉词语学习测验，即时回忆39.2±9.5 vs. 27.6±12.8，p < 0.001，延迟回忆7.2±3.7 vs. 4.7±4.0，p = 0.022）以及神经精神科问卷（9.7±9.2 vs. 20.5±14.3，p = 0.004，在淡漠和幻觉方面有显著差异）上的损伤也较轻。LRRK2-PD患者接受抗精神病药物治疗的频率较低（0% vs. 25.9%，p = 0.010）。G2019S和R1441G突变携带者之间无显著差异。
与iPD相比，LRRK2基因突变可能导致帕金森病患者的认知和神经精神损伤较轻。
