LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol : Deep Phenotyping of an International Genetic Cohort
| Autor: | Tatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, Volha Skrahina, Xenia Bogdanovic, Hanaa Gaber, Toni M. Förster, Andreas Heuer, Natalia Koleva-Alazeh, Ilona Csoti, Ayse Nazli Basak, Sibel Ertan, Gencer Genc, Peter Bauer, Katja Lohmann, Anne Grünewald, Emma L. Schymanski, Joanne Trinh, Susen Schaake, Daniela Berg, Doreen Gruber, Stuart H. Isaacson, Andrea A. Kühn, Brit Mollenhauer, David J. Pedrosa, Kathrin Reetz, Esther M. Sammler, Enza Maria Valente, Franco Valzania, Jens Volkmann, Simone Zittel, Norbert Brüggemann, Meike Kasten, Arndt Rolfs, Christine Klein, The LIPAD Study Group |
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| Přispěvatelé: | Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Usnich, Tatiana, Vollstedt, Eva-Juliane, Schell, Nathalie, Skrahina, Volha, Bogdanovic, Xenia, Gaber, Hanaa, Foerster, Toni M., Heuer, Andreas, Koleva-Alazeh, Natalia, Csoti, Ilona, Genç, Gencer, Bauer, Peter, Lohmann, Katja, Gruenewald, Anne, Schymanski, Emma L., Trinh, Joanne, Schaake, Susen, Berg, Daniela, Gruber, Doreen, Isaacson, Stuart H., Kuehn, Andrea A., Mollenhauer, Brit, Pedrosa, David J., Reetz, Kathrin, Sammler, Esther M., Valente, Enza Maria, Valzania, Franco, Volkmann, Jens, Zittel, Simone, Brueggemann, Norbert, Kasten, Meike, Rolfs, Arndt, Klein, Christine, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Parkinson's disease Disease Study Protocol Quality of life Internal medicine Medicine Risk factor RC346-429 business.industry genetic cohort LRRK2 GBA Clinical study Genetic cohort Montreal Cognitive Assessment clinical study medicine.disease Penetrance Clinical neurology Neurosciences nervous system diseases Neurology Cohort Neurology. Diseases of the nervous system Neurology (clinical) business |
| Zdroj: | Frontiers in Neurology Frontiers in Neurology, Vol 12 (2021) Frontiers in neurology 12, 710572 (2021). doi:10.3389/fneur.2021.710572 special issue: "Neurogenetics / Huifang Shang, Speciality Chief Editor; Yan Asmann, Associate Editor; Peter O. Bauer, Associate Editor; Giorgio B. Boncoraglio, Associate Editor" |
| DOI: | 10.18154/rwth-conv-248211 |
| Popis: | Background: pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are the most common known monogenic cause of Parkinson's disease (PD). LRRK2-linked PD is clinically indistinguishable from idiopathic PD and inherited in an autosomal dominant fashion with reduced penetrance and variable expressivity that differ across ethnicities and geographic regions. Objective: to systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in PD patients, unaffected LRRK2 pathogenic variant carriers, and controls. A further focus is to enable the investigation of modifiers of penetrance and expressivity of LRRK2 pathogenic variants using genetic and environmental data. Methods: eligible participants are invited for a personal or online examination which comprises completion of a detailed eCRF and collection of blood samples (to obtain DNA, RNA, serum/plasma, immune cells), urine as well as household dust. We plan to enroll 1,000 participants internationally: 300 with LRRK2-linked PD, 200 with LRRK2 pathogenic variants but without PD, 100 PD patients with pathogenic variants in the GBA or PRKN genes, 200 patients with idiopathic PD, and 200 healthy persons without pathogenic variants. Results: the eCRF consists of an investigator-rated (1 h) and a self-rated (1.5 h) part. The first part includes the Movement Disorder Society Unified Parkinson's Disease Rating, Hoehn &Yahr, and Schwab & England Scales, the Brief Smell Identification Test, and Montreal Cognitive Assessment. The self-rating part consists of a PD risk factor, food frequency, autonomic dysfunction, and quality of life questionnaires, the Pittsburgh Sleep Quality Inventory, and the Epworth Sleepiness as well as the Hospital Anxiety and Depression Scales. The first 15 centers have been initiated and the first 150 participants enrolled (as of March 25th, 2021). Conclusions: LIPAD is a large-scale international scientific effort focusing on deep phenotyping of LRRK2-linked PD and healthy pathogenic variant carriers, including the comparison with additional relatively frequent genetic forms of PD, with a future perspective to identify genetic and environmental modifiers of penetrance and expressivity Suna and İnan Kıraç Foundation; Luxembourg National Research Fund (FNR); University of Lübeck Institute of Neurogenetics; Centogene GmbH |
| Databáze: | OpenAIRE |
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