GiOPARK Project
Rattachement africain : hr, si. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Parkinson's disease is a neurological disorder that affects motor function, autonomic functions, and cognitive abilities.It is likely that both genetic and environmental factors, along with age, contribute to the cause.However, there is no comprehensive guideline for genetic testing for Parkinson's disease, and more research is needed to understand genetic variations in different populations.There has been no research on the genetic background of Parkinson's disease in Croatia so far.Therefore, with the GiOPARK project, we aimed to investigate the genetic variants responsible for Parkinson's disease in 153 Croatian patients with early onset, familial onset, and sporadic lateonset using whole-exome sequencing, along with multiplex ligation-dependent probe amplification and Sanger sequencing in select patients.We found causative variants in 7.84% of the patients, with GBA being the most common gene (4.58%),followed by PRKN (1.96%), ITM2B (0.65%), and MAPT (0.65%).Moreover, variants of uncertain significance were identified in 26.14% of the patients.The causative variants were found in all three subgroups, indicating that genetic factors play a role in all the analyzed Parkinson's disease subtypes.This study emphasizes the need for more inclusive research and improved guidelines to better understand the genetic basis of Parkinson's disease and facilitate more effective clinical management.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
Où se fait cette recherche
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University of Rijeka pays non établi dans la noticeUniversité ou école supérieure
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Ljubljana University Medical Centre pays non établi dans la noticeÉtablissement de santé
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Clinical Hospital Center Rijeka Department of Neurology pays non établi dans la noticeÉtablissement de santé
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Faculty of Medicine Department of Neurology pays non établi dans la noticeUniversité ou école supérieure
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University Medical Centre Ljubljana Clinical Institute of Genomic Medicine pays non établi dans la noticeUniversité ou école supérieure
University of Rijeka, Ljubljana University Medical Centre et Department of Neurology — Clinical Hospital Center Rijeka, avec 2 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.