Presenting symptoms of GBA-related Parkinson's disease

Nikola Kresojević; Milena Janković; Igor Petrović; Kishore R. Kumar; Nataša Dragašević; Valerija Dobričić; Ivana Novaković; Marina Svetel; Christine Klein; Tatjana Pekmezović; Vladimir S. Kostić

doi:10.1016/j.parkreldis.2015.04.028

Presenting symptoms of GBA-related Parkinson's disease

Nikola Kresojević, Milena Janković, Igor Petrović, Kishore R. Kumar, Nataša Dragašević, Valerija Dobričić, Ivana Novaković, Marina Svetel, Christine Klein, Tatjana Pekmezović, Vladimir S. Kostić^*

^*Korrespondierende/r Autor/-in für diese Arbeit

15 Zitate (Scopus)

Abstract

Background: Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD). Aim: To explore whether presenting symptoms differ between PD-GBA and sPD patients. Methods: Demographic and clinical features (including presenting symptoms) were collected for 578 PD patients. Sequence analysis was performed for exons 8-11 of the GBA gene for all participants. Results: 39 PD patients (6.7%) with GBA mutations were compared to 539 PD patients without them. Although no statistically significant differences were found regarding the presenting symptoms, we observed that pain was more frequently reported as an initial problem in the PD-GBA (10.3%) than in the sPD group (3.0%) (chi square p=0.039; logistic regression analysis OR=3.74; p=0.024). Conclusions: Overall, the presenting symptoms were similar in PD-GBA and sPD patients, with the exception that pain might be more frequent in PD-GBA. •Sequence analysis was performed for exons 8-11 of the GBA gene for 578 PD patients.•GBA mutations were found in 39 PD patients (6.7%) (PD-GBA).•Overall the presenting symptoms in PD-GBA and sPD did not differ.•Pain was more frequently reported as initial symptom in PD-GBA.

Originalsprache	Englisch
Zeitschrift	Parkinsonism and Related Disorders
Jahrgang	21
Ausgabenummer	7
Seiten (von - bis)	804-807
Seitenumfang	4
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2015.04.028
Publikationsstatus	Veröffentlicht - 01.07.2015

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Nikola Kresojević, Melena Janković, Nataša Dragašević, Ivana Novaković and Tatjana Pekmezović report no disclosures. Kishore Kumar is supported by a Douglas Piper Fellowship from the Royal North Shore Hospital Scholarship Program, and a National Health and Medical Research Council (NHMRC) Early Career Fellowship. Igor Petrović received honoraria for lectures for Boehringer Ingelheim and GlaxoSmithKline. Marina Svetel received honoraria for lectures for GlaxoSmithKline, Novartis and Boeringer/Ingelheim. Christine Klein is Medical advisor to Centogene; the recipient of a career development award from the Hermann and Lilly Schilling Foundation and receives grants from the BMBF; the German Research Foundation; the European Community (FP7); intramural funds from the University of Luebeck. Vladimir Kostić is a member of Regional South-Eastern European Advisory Board of Boehringer Ingelheim and received honoraria for lectures for Novartis, Boehringer Ingelheim, Libra (Merck), Lundbeck and GlaxoSmithKline. This study was supported by a grant from the Ministry of Education and Science , Republic of Serbia (projects #ON 175090 to VK).

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10.1016/j.parkreldis.2015.04.028

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title = "Presenting symptoms of GBA-related Parkinson's disease",

abstract = "Background: Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to {"}sporadic{"} PD patients without such mutations (sPD). Aim: To explore whether presenting symptoms differ between PD-GBA and sPD patients. Methods: Demographic and clinical features (including presenting symptoms) were collected for 578 PD patients. Sequence analysis was performed for exons 8-11 of the GBA gene for all participants. Results: 39 PD patients (6.7\%) with GBA mutations were compared to 539 PD patients without them. Although no statistically significant differences were found regarding the presenting symptoms, we observed that pain was more frequently reported as an initial problem in the PD-GBA (10.3\%) than in the sPD group (3.0\%) (chi square p=0.039; logistic regression analysis OR=3.74; p=0.024). Conclusions: Overall, the presenting symptoms were similar in PD-GBA and sPD patients, with the exception that pain might be more frequent in PD-GBA. •Sequence analysis was performed for exons 8-11 of the GBA gene for 578 PD patients.•GBA mutations were found in 39 PD patients (6.7\%) (PD-GBA).•Overall the presenting symptoms in PD-GBA and sPD did not differ.•Pain was more frequently reported as initial symptom in PD-GBA.",

author = "Nikola Kresojevi{\'c} and Milena Jankovi{\'c} and Igor Petrovi{\'c} and Kumar, \{Kishore R.\} and Nata{\v s}a Draga{\v s}evi{\'c} and Valerija Dobri{\v c}i{\'c} and Ivana Novakovi{\'c} and Marina Svetel and Christine Klein and Tatjana Pekmezovi{\'c} and Kosti{\'c}, \{Vladimir S.\}",

year = "2015",

month = jul,

day = "1",

doi = "10.1016/j.parkreldis.2015.04.028",

language = "English",

volume = "21",

pages = "804--807",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

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T1 - Presenting symptoms of GBA-related Parkinson's disease

AU - Kresojević, Nikola

AU - Janković, Milena

AU - Petrović, Igor

AU - Kumar, Kishore R.

AU - Dragašević, Nataša

AU - Dobričić, Valerija

AU - Novaković, Ivana

AU - Svetel, Marina

AU - Klein, Christine

AU - Pekmezović, Tatjana

AU - Kostić, Vladimir S.

PY - 2015/7/1

Y1 - 2015/7/1

N2 - Background: Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD). Aim: To explore whether presenting symptoms differ between PD-GBA and sPD patients. Methods: Demographic and clinical features (including presenting symptoms) were collected for 578 PD patients. Sequence analysis was performed for exons 8-11 of the GBA gene for all participants. Results: 39 PD patients (6.7%) with GBA mutations were compared to 539 PD patients without them. Although no statistically significant differences were found regarding the presenting symptoms, we observed that pain was more frequently reported as an initial problem in the PD-GBA (10.3%) than in the sPD group (3.0%) (chi square p=0.039; logistic regression analysis OR=3.74; p=0.024). Conclusions: Overall, the presenting symptoms were similar in PD-GBA and sPD patients, with the exception that pain might be more frequent in PD-GBA. •Sequence analysis was performed for exons 8-11 of the GBA gene for 578 PD patients.•GBA mutations were found in 39 PD patients (6.7%) (PD-GBA).•Overall the presenting symptoms in PD-GBA and sPD did not differ.•Pain was more frequently reported as initial symptom in PD-GBA.

AB - Background: Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD). Aim: To explore whether presenting symptoms differ between PD-GBA and sPD patients. Methods: Demographic and clinical features (including presenting symptoms) were collected for 578 PD patients. Sequence analysis was performed for exons 8-11 of the GBA gene for all participants. Results: 39 PD patients (6.7%) with GBA mutations were compared to 539 PD patients without them. Although no statistically significant differences were found regarding the presenting symptoms, we observed that pain was more frequently reported as an initial problem in the PD-GBA (10.3%) than in the sPD group (3.0%) (chi square p=0.039; logistic regression analysis OR=3.74; p=0.024). Conclusions: Overall, the presenting symptoms were similar in PD-GBA and sPD patients, with the exception that pain might be more frequent in PD-GBA. •Sequence analysis was performed for exons 8-11 of the GBA gene for 578 PD patients.•GBA mutations were found in 39 PD patients (6.7%) (PD-GBA).•Overall the presenting symptoms in PD-GBA and sPD did not differ.•Pain was more frequently reported as initial symptom in PD-GBA.

UR - https://www.scopus.com/pages/publications/84930933311

U2 - 10.1016/j.parkreldis.2015.04.028

DO - 10.1016/j.parkreldis.2015.04.028

M3 - Journal articles

C2 - 25957717

AN - SCOPUS:84930933311

SN - 1353-8020

VL - 21

SP - 804

EP - 807

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

IS - 7

ER -

Presenting symptoms of GBA-related Parkinson's disease

Abstract

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