{"id":{"repo_id":"milano","oai_identifier":"oai:air.unimi.it:2434/1121075"},"canonical_url":"https://search.dev.ndltd.org/etd/milano/oai:air.unimi.it:2434/1121075","repository":{"repo_id":"milano","name":"Università degli Studi di Milano","base_url":"https://air.unimi.it/oai/request"},"display":{"title":"CARDIOVASCULAR AUTONOMIC IMPAIRMENT IN GBA PARKINSONIAN PATIENTS","abstract":"Background: Mutations in the Beta-glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson’s disease (PD). GBA-associated PD (GBA-PD) has been linked to a higher prevalence of non-motor symptoms compared to idiopathic PD (I-PD), raising the question of whether autonomic dysfunction is more frequent or expressed differently in GBA-PD patients. Objectives: This study aimed to investigate cardiovascular autonomic function in GBA-PD patients compared to I-PD patients. The primary objective was to evaluate the prevalence and severity of cardiovascular dysautonomia in GBA-PD patients. Secondary objectives included determining whether dysautonomia primarily affects the sympathetic, parasympathetic, or both systems and performing a genotype-phenotype analysis to explore whether individuals with severe GBA variants are at a greater risk for cardiovascular dysautonomia. Methods: The frequency and severity of autonomic symptoms were measured using the SCOPA-AUT questionnaire. Cardiovascular autonomic reflex testing was conducted in an autonomic laboratory using standard clinical protocols. Spectral analysis of heart rate variability was performed to assess sympatho-vagal balance and vagal tone in both supine and standing positions. Additionally, 123I-MIBG myocardial single-photon emission CT was used to evaluate postganglionic sympathetic nerve terminals. Results: A total of 34 GBA carriers and 33 I-PD patients were included. GBA-PD patients exhibited greater severity of autonomic symptoms compared to the I-PD cohort, as indicated by the SCOPA-AUT questionnaire results. Autonomic testing revealed increased parasympathetic impairment in the GBA-PD group, which was confirmed by spectral analysis showing reduced vagal modulation. The degree of sympathetic cardiac denervation was comparable between the two groups. Conclusions: This study provides evidence of autonomic dysfunction in both GBA-PD and I-PD patients, with a particular emphasis on parasympathetic impairment in the GBA-PD population. Genotype-phenotype analysis did not identify a correlation between the severity of GBA mutations and cardiovascular autonomic dysfunction.","abstract_html":"Background: Mutations in the Beta-glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson’s disease (PD). GBA-associated PD (GBA-PD) has been linked to a higher prevalence of non-motor symptoms compared to idiopathic PD (I-PD), raising the question of whether autonomic dysfunction is more frequent or expressed differently in GBA-PD patients. Objectives: This study aimed to investigate cardiovascular autonomic function in GBA-PD patients compared to I-PD patients. The primary objective was to evaluate the prevalence and severity of cardiovascular dysautonomia in GBA-PD patients. Secondary objectives included determining whether dysautonomia primarily affects the sympathetic, parasympathetic, or both systems and performing a genotype-phenotype analysis to explore whether individuals with severe GBA variants are at a greater risk for cardiovascular dysautonomia. Methods: The frequency and severity of autonomic symptoms were measured using the SCOPA-AUT questionnaire. Cardiovascular autonomic reflex testing was conducted in an autonomic laboratory using standard clinical protocols. Spectral analysis of heart rate variability was performed to assess sympatho-vagal balance and vagal tone in both supine and standing positions. Additionally, 123I-MIBG myocardial single-photon emission CT was used to evaluate postganglionic sympathetic nerve terminals. Results: A total of 34 GBA carriers and 33 I-PD patients were included. GBA-PD patients exhibited greater severity of autonomic symptoms compared to the I-PD cohort, as indicated by the SCOPA-AUT questionnaire results. Autonomic testing revealed increased parasympathetic impairment in the GBA-PD group, which was confirmed by spectral analysis showing reduced vagal modulation. The degree of sympathetic cardiac denervation was comparable between the two groups. Conclusions: This study provides evidence of autonomic dysfunction in both GBA-PD and I-PD patients, with a particular emphasis on parasympathetic impairment in the GBA-PD population. Genotype-phenotype analysis did not identify a correlation between the severity of GBA mutations and cardiovascular autonomic dysfunction.","abstract_has_math":false,"creators":["COCCO, ANTONIANGELA"],"institution":"Università degli Studi di Milano","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["tutor: A. Albanese","G. Comi ; coordinatore: C. Sforza","A. Cocco","COMI, GIACOMO PIETRO","SFORZA, CHIARELLA"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2024,"date_issued":"2024-06-10","date_published":"2024-06-10","updated_at":"2026-07-27T20:19:08Z","subjects":["Parkinson's disease",", glucocerebrosidase","dysautonomia","non-motor symptoms","Settore MED/26 - Neurologia","Settore MEDS-12/A - Neurologia"],"languages":["eng"],"rights":["info:eu-repo/semantics/openAccess"],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["http://dx.doi.org/10.13130/cocco-antoniangela_phd2024-06-10","10.13130/cocco-antoniangela_phd2024-06-10"],"render_values":[{"text":"http://dx.doi.org/10.13130/cocco-antoniangela_phd2024-06-10","href":"http://dx.doi.org/10.13130/cocco-antoniangela_phd2024-06-10","code":true},{"text":"10.13130/cocco-antoniangela_phd2024-06-10","href":"https://doi.org/10.13130/cocco-antoniangela_phd2024-06-10","code":true}]}]},"links":{"outbound_url":"https://hdl.handle.net/2434/1121075","outbound_label":"Handle","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["tutor: A. 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Mangiagalli, 32, Città Studi"]},{"key":"dc:relation","label":"Dc Relation","values":["numberofpages:80"]},{"key":"dc:type","label":"Dc Type","values":["info:eu-repo/semantics/doctoralThesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Parkinson's disease",", glucocerebrosidase","dysautonomia","non-motor symptoms","Settore MED/26 - Neurologia","Settore MEDS-12/A - Neurologia"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["eng"]},{"key":"dc:rights","label":"Dc Rights","values":["info:eu-repo/semantics/openAccess"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://hdl.handle.net/2434/1121075","http://dx.doi.org/10.13130/cocco-antoniangela_phd2024-06-10","10.13130/cocco-antoniangela_phd2024-06-10"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Background: Mutations in the Beta-glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson’s disease (PD). GBA-associated PD (GBA-PD) has been linked to a higher prevalence of non-motor symptoms compared to idiopathic PD (I-PD), raising the question of whether autonomic dysfunction is more frequent or expressed differently in GBA-PD patients. Objectives: This study aimed to investigate cardiovascular autonomic function in GBA-PD patients compared to I-PD patients. The primary objective was to evaluate the prevalence and severity of cardiovascular dysautonomia in GBA-PD patients. Secondary objectives included determining whether dysautonomia primarily affects the sympathetic, parasympathetic, or both systems and performing a genotype-phenotype analysis to explore whether individuals with severe GBA variants are at a greater risk for cardiovascular dysautonomia. Methods: The frequency and severity of autonomic symptoms were measured using the SCOPA-AUT questionnaire. Cardiovascular autonomic reflex testing was conducted in an autonomic laboratory using standard clinical protocols. Spectral analysis of heart rate variability was performed to assess sympatho-vagal balance and vagal tone in both supine and standing positions. Additionally, 123I-MIBG myocardial single-photon emission CT was used to evaluate postganglionic sympathetic nerve terminals. Results: A total of 34 GBA carriers and 33 I-PD patients were included. GBA-PD patients exhibited greater severity of autonomic symptoms compared to the I-PD cohort, as indicated by the SCOPA-AUT questionnaire results. Autonomic testing revealed increased parasympathetic impairment in the GBA-PD group, which was confirmed by spectral analysis showing reduced vagal modulation. The degree of sympathetic cardiac denervation was comparable between the two groups. Conclusions: This study provides evidence of autonomic dysfunction in both GBA-PD and I-PD patients, with a particular emphasis on parasympathetic impairment in the GBA-PD population. Genotype-phenotype analysis did not identify a correlation between the severity of GBA mutations and cardiovascular autonomic dysfunction."]},{"key":"dc:title","label":"Title","values":["CARDIOVASCULAR AUTONOMIC IMPAIRMENT IN GBA PARKINSONIAN PATIENTS"]}]}],"canonical_facts":{"dc:contributor":["tutor: A. Albanese","G. Comi ; coordinatore: C. Sforza","A. Cocco","COMI, GIACOMO PIETRO","SFORZA, CHIARELLA"],"dc:creator":["COCCO, ANTONIANGELA"],"dc:date":["2024-06-10"],"dc:description":["Background: Mutations in the Beta-glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson’s disease (PD). GBA-associated PD (GBA-PD) has been linked to a higher prevalence of non-motor symptoms compared to idiopathic PD (I-PD), raising the question of whether autonomic dysfunction is more frequent or expressed differently in GBA-PD patients. Objectives: This study aimed to investigate cardiovascular autonomic function in GBA-PD patients compared to I-PD patients. The primary objective was to evaluate the prevalence and severity of cardiovascular dysautonomia in GBA-PD patients. Secondary objectives included determining whether dysautonomia primarily affects the sympathetic, parasympathetic, or both systems and performing a genotype-phenotype analysis to explore whether individuals with severe GBA variants are at a greater risk for cardiovascular dysautonomia. Methods: The frequency and severity of autonomic symptoms were measured using the SCOPA-AUT questionnaire. Cardiovascular autonomic reflex testing was conducted in an autonomic laboratory using standard clinical protocols. Spectral analysis of heart rate variability was performed to assess sympatho-vagal balance and vagal tone in both supine and standing positions. Additionally, 123I-MIBG myocardial single-photon emission CT was used to evaluate postganglionic sympathetic nerve terminals. Results: A total of 34 GBA carriers and 33 I-PD patients were included. GBA-PD patients exhibited greater severity of autonomic symptoms compared to the I-PD cohort, as indicated by the SCOPA-AUT questionnaire results. Autonomic testing revealed increased parasympathetic impairment in the GBA-PD group, which was confirmed by spectral analysis showing reduced vagal modulation. The degree of sympathetic cardiac denervation was comparable between the two groups. Conclusions: This study provides evidence of autonomic dysfunction in both GBA-PD and I-PD patients, with a particular emphasis on parasympathetic impairment in the GBA-PD population. Genotype-phenotype analysis did not identify a correlation between the severity of GBA mutations and cardiovascular autonomic dysfunction."],"dc:identifier":["https://hdl.handle.net/2434/1121075","http://dx.doi.org/10.13130/cocco-antoniangela_phd2024-06-10","10.13130/cocco-antoniangela_phd2024-06-10"],"dc:language":["eng"],"dc:publisher":["Università degli Studi di Milano","place:V. Mangiagalli, 32, Città Studi"],"dc:relation":["numberofpages:80"],"dc:rights":["info:eu-repo/semantics/openAccess"],"dc:subject":["Parkinson's disease",", glucocerebrosidase","dysautonomia","non-motor symptoms","Settore MED/26 - Neurologia","Settore MEDS-12/A - Neurologia"],"dc:title":["CARDIOVASCULAR AUTONOMIC IMPAIRMENT IN GBA PARKINSONIAN PATIENTS"],"dc:type":["info:eu-repo/semantics/doctoralThesis"]},"updated_at":"2026-07-27T20:19:08Z"}