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

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. Obiectives: 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. Methods: 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. Results: 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. Discussion: 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.