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Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control

Evidence from clinical practice suggests that PD patients with the Glucocerebrosidase gene mutations (GBA-PD) are characterized by more severe dysautonomic symptoms than patients with idiopathic PD (iPD). Therefore, an accurate assessment of cardiovascular autonomic control (CAC) is necessary to cla...

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Autores principales: Carandina, Angelica, Lazzeri, Giulia, Rodrigues, Gabriel Dias, Franco, Giulia, Monfrini, Edoardo, Arienti, Federica, Frattini, Emanuele, Trezzi, Ilaria, da Silva Soares, Pedro Paulo, Bellocchi, Chiara, Furlan, Ludovico, Montano, Nicola, Di Fonzo, Alessio, Tobaldini, Eleonora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8964968/
https://www.ncbi.nlm.nih.gov/pubmed/35368256
http://dx.doi.org/10.3389/fnins.2022.842498
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author Carandina, Angelica
Lazzeri, Giulia
Rodrigues, Gabriel Dias
Franco, Giulia
Monfrini, Edoardo
Arienti, Federica
Frattini, Emanuele
Trezzi, Ilaria
da Silva Soares, Pedro Paulo
Bellocchi, Chiara
Furlan, Ludovico
Montano, Nicola
Di Fonzo, Alessio
Tobaldini, Eleonora
author_facet Carandina, Angelica
Lazzeri, Giulia
Rodrigues, Gabriel Dias
Franco, Giulia
Monfrini, Edoardo
Arienti, Federica
Frattini, Emanuele
Trezzi, Ilaria
da Silva Soares, Pedro Paulo
Bellocchi, Chiara
Furlan, Ludovico
Montano, Nicola
Di Fonzo, Alessio
Tobaldini, Eleonora
author_sort Carandina, Angelica
collection PubMed
description Evidence from clinical practice suggests that PD patients with the Glucocerebrosidase gene mutations (GBA-PD) are characterized by more severe dysautonomic symptoms than patients with idiopathic PD (iPD). Therefore, an accurate assessment of cardiovascular autonomic control (CAC) is necessary to clarify the role of GBA mutations in the pathophysiology of PD. We evaluated the CAC at rest and during orthostatic challenge of 15 iPD, 15 GBA-PD and 15 healthy controls (CTR). ECG and respiration were recorded in supine position and during active standing. The analysis of Heart Rate Variability (HRV) was performed on ECG recordings using two different approaches, linear spectral analysis and non-linear symbolic analysis. GBA-PD patients presented more frequently an akinetic-rigid phenotype and cognitive dysfunction than iPD patients. Both iPD and GBA-PD group were characterized by a lower spectral HRV than CTR group. At rest, the GBA-PD group was characterized by a lower parasympathetic modulation and a shift of the sympathovagal balance toward a sympathetic predominance compared to the CTR group. Moreover, the GBA-PD patients presented a lower HR increment and a lower or absent reduction of the vagal modulation in response to the active standing than iPD patients. Lastly, the cardiovascular autonomic dysfunction in PD patients was associated with longer disease duration, and with the occurrence of REM sleep behavior disorder and constipation. Our findings suggest a more severe impairment of the CAC in PD patients with GBA mutations. These results and further studies on the role of GBA mutations could allow a stratification based on cardiovascular risk in PD patients and the implementation of specific prevention programs.
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spelling pubmed-89649682022-03-31 Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control Carandina, Angelica Lazzeri, Giulia Rodrigues, Gabriel Dias Franco, Giulia Monfrini, Edoardo Arienti, Federica Frattini, Emanuele Trezzi, Ilaria da Silva Soares, Pedro Paulo Bellocchi, Chiara Furlan, Ludovico Montano, Nicola Di Fonzo, Alessio Tobaldini, Eleonora Front Neurosci Neuroscience Evidence from clinical practice suggests that PD patients with the Glucocerebrosidase gene mutations (GBA-PD) are characterized by more severe dysautonomic symptoms than patients with idiopathic PD (iPD). Therefore, an accurate assessment of cardiovascular autonomic control (CAC) is necessary to clarify the role of GBA mutations in the pathophysiology of PD. We evaluated the CAC at rest and during orthostatic challenge of 15 iPD, 15 GBA-PD and 15 healthy controls (CTR). ECG and respiration were recorded in supine position and during active standing. The analysis of Heart Rate Variability (HRV) was performed on ECG recordings using two different approaches, linear spectral analysis and non-linear symbolic analysis. GBA-PD patients presented more frequently an akinetic-rigid phenotype and cognitive dysfunction than iPD patients. Both iPD and GBA-PD group were characterized by a lower spectral HRV than CTR group. At rest, the GBA-PD group was characterized by a lower parasympathetic modulation and a shift of the sympathovagal balance toward a sympathetic predominance compared to the CTR group. Moreover, the GBA-PD patients presented a lower HR increment and a lower or absent reduction of the vagal modulation in response to the active standing than iPD patients. Lastly, the cardiovascular autonomic dysfunction in PD patients was associated with longer disease duration, and with the occurrence of REM sleep behavior disorder and constipation. Our findings suggest a more severe impairment of the CAC in PD patients with GBA mutations. These results and further studies on the role of GBA mutations could allow a stratification based on cardiovascular risk in PD patients and the implementation of specific prevention programs. Frontiers Media S.A. 2022-03-15 /pmc/articles/PMC8964968/ /pubmed/35368256 http://dx.doi.org/10.3389/fnins.2022.842498 Text en Copyright © 2022 Carandina, Lazzeri, Rodrigues, Franco, Monfrini, Arienti, Frattini, Trezzi, da Silva Soares, Bellocchi, Furlan, Montano, Di Fonzo and Tobaldini. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Carandina, Angelica
Lazzeri, Giulia
Rodrigues, Gabriel Dias
Franco, Giulia
Monfrini, Edoardo
Arienti, Federica
Frattini, Emanuele
Trezzi, Ilaria
da Silva Soares, Pedro Paulo
Bellocchi, Chiara
Furlan, Ludovico
Montano, Nicola
Di Fonzo, Alessio
Tobaldini, Eleonora
Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
title Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
title_full Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
title_fullStr Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
title_full_unstemmed Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
title_short Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
title_sort dysautonomia in parkinson’s disease: impact of glucocerebrosidase gene mutations on cardiovascular autonomic control
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8964968/
https://www.ncbi.nlm.nih.gov/pubmed/35368256
http://dx.doi.org/10.3389/fnins.2022.842498
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