Nikitina M A, Bragina E Yu, Nazarenko M S, Alifirova V M
Siberian State Medical University, Tomsk, Russia.
Scientific Research Institute of Medical Genetics - Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(7):82-88. doi: 10.17116/jnevro202412407182.
To evaluate the frequency and severity of various clinical symptoms of Parkinson's disease (PD) depending on the rs6265 polymorphism.
The study included 533 patients with PD. The stage of PD was assessed using the Hoehn and Yahr scale (1967), motor symptoms were evaluated with MDS-UPDRS. Assessment of non-motor symptoms (NMS) in PD was conducted using the Beck Depression Inventory II (BDI-II); the Hospital Anxiety and Depression Scale (HADS); the Apathy Scale; the Montreal Cognitive Assessment (MoCA test); the Questionnaire for Impulsive-Compulsive Disorders in PD -Rating Scale (QUIP-RS). Genotyping of the variant (rs6265) was performed using real-time PCR with TaqMan probes.
Most PD patients have a combination of NMS increasing as the disease progresses and is determined by molecular-genetic individual characteristics. There are significant differences in the severity of motor symptoms and NMS: individuals with the genotype showed significantly pronounced motor symptoms (<0.0001); emotional-affective symptoms (<0.0001); cognitive and impulsive behavioral disorders (<0.0001).
The rs6265 allele is associated with a wide range of NMS, increasing the risk of their development in patients with PD, thus playing the important role in the etiopathogenesis of this pathology.
根据rs6265基因多态性评估帕金森病(PD)各种临床症状的发生频率和严重程度。
该研究纳入了533例PD患者。使用Hoehn和Yahr量表(1967年)评估PD分期,采用MDS-UPDRS评估运动症状。使用贝克抑郁量表第二版(BDI-II)、医院焦虑抑郁量表(HADS)、淡漠量表、蒙特利尔认知评估量表(MoCA测试)、帕金森病冲动控制障碍问卷-评定量表(QUIP-RS)对PD患者的非运动症状(NMS)进行评估。采用TaqMan探针实时PCR对变异体(rs6265)进行基因分型。
大多数PD患者存在随着疾病进展而增加的NMS组合,且由分子遗传个体特征决定。运动症状和NMS的严重程度存在显著差异:具有该基因型的个体表现出明显更显著的运动症状(<0.0001);情绪情感症状(<0.0001);认知和冲动行为障碍(<0.0001)。
rs6265等位基因与多种NMS相关,增加了PD患者发生这些症状的风险,因此在该疾病的病因发病机制中起重要作用。