首页> 外文OA文献 >Sintomi non motori e disautonomia cardiovascolare in pazienti sardi affetti da malattia di parkinson con e senza mutazioni del gene LRRK2
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Sintomi non motori e disautonomia cardiovascolare in pazienti sardi affetti da malattia di parkinson con e senza mutazioni del gene LRRK2

机译:有或没有LRRK2基因突变的帕金森病患者的非运动症状和心血管疾病自主神经功能障碍

摘要

Background: Although Parkinson’s disease (PD) is commonly described as a motor disorder, non-motor symptoms and cardiovascular dysautonomia are important factors of disability and impaired quality of life in PD patients. To date, the definite correlation of cardiovascular symptoms with motor and other non-motor symptoms of PD are still largely unclear. Besides, the discovery of genetic mutations related to PD, such as LRRK2 mutations, provides better possibility to identify specific phenotypes both for motor and non-motor symptoms.udObiectives: The main objective of our study was directed to investigate the presence and the correlation of cardiovascular dysautonomia with other non-motor symptoms in PD patients, with with or without LRRK2 mutations. Finally, we performed a study of heart rate variability (HRV) and exercise stress echocardiography with the attempt to investigate dysautonomia in these groups of patients.udMethods: Forty fifteen Sardinian PD patients (240 men and 165 women) were included in the study. PD patients were screened for the presence of LRRK2 mutations. Motor impairment and disability were assessed using the Hoehn & Yahr staging and the Unified PD Rating Scale (UPDRS) part-III. Cardiovascular symptoms and other non-motor symptoms were assessed with the Non-Motor Symptoms Scale (NMSS). Correlations between cardiovascular symptoms and other PD features were studied. Heart rate variability (HRV) and exercise stress echocardiography were performed in two subgroups of patients (with or without LRRK2 mutations) and in a control group, matched for age and gender.udResults: Cardiovascular symptoms were among the five non-motor symptoms more reported and were correlated with multiple non motor symptoms, especially with fatigue and loss of weight. PD patients with LRRK2 mutations reported less severity of cardiovascular symptoms. HRV revealed reduced LF/HF ratio both in PD patients with or without LRKK2 mutations, with enhancement of HF in LRRK2 patients. Cardiovascular symptoms detected at NMSS correlated with LF/HF ratio. Echocardiography show a Δ Strain rate reduced in parkinsonian patients. Δ Strain rate was also correlated with the LF/HF ratio in the LRRK2 group.udDiscussion: The better assessment of non-motor and cardiovascular symptoms in PD patients with and without LRRK2 mutation, both with the systematic administration of symptomatic scales, such as the NMSS, and with a combined approach with HRV and exercise stress echocardiography, might lead to the detection of better monitoring systems and to the possible improvement of current strategies used in the treatment of these disabling conditions.
机译:背景:尽管帕金森氏病(PD)通常被描述为一种运动障碍,但非运动症状和心血管机能障碍是PD患者残疾和生活质量受损的重要因素。迄今为止,在很大程度上尚不清楚心血管症状与PD的运动和其他非运动症状的明确相关性。此外,发现与PD相关的遗传突变,例如LRRK2突变,为识别运动和非运动症状的特定表型提供了更好的可能性。 udBectives:我们研究的主要目的是研究存在与否的相关性。伴或不伴LRRK2突变的PD患者的心血管功能不全和其他非运动症状。最后,我们进行了心率变异性(HRV)和运动压力超声心动图的研究,以试图调查这些患者组的自主神经功能障碍。对PD患者进行LRRK2突变筛选。使用Hoehn&Yahr分期法和统一PD评分量表(UPDRS)第III部分评估运动障碍和残疾。使用非运动症状量表(NMSS)评估心血管症状和其他非运动症状。研究了心血管症状与其他PD功能之间的相关性。在两组患者中(有或没有LRRK2突变)和对照组进行了心率变异性(HRV)和运动压力超声心动图检查,并根据年龄和性别进行了匹配。 ud结果:心血管症状是五种非运动性症状中的另一项。报告并与多种非运动症状相关,尤其是与疲劳和体重减轻有关。具有LRRK2突变的PD患者报告的心血管症状严重程度较低。 HRV揭示有或无LRKK2突变的PD患者的LF / HF比值降低,而LRRK2患者的HF升高。在NMSS检测到的心血管症状与LF / HF比率相关。超声心动图显示帕金森病患者的Δ应变率降低。 Δ应变率也与LRRK2组的LF / HF比值相关。 ud讨论:系统性地对症状量表进行管理,可以更好地评估患有和不患有LRRK2突变的PD患者的非运动和心血管症状。 NMSS以及结合HRV和运动压力超声心动图的方法,可能会导致发现更好的监测系统,并可能改善当前用于治疗这些残疾状况的策略。

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    Solla Paolo;

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