The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

被引：74

作者：

Skrahina, Volha ^{[1
]}

Gaber, Hanaa ^{[1
]}

Vollstedt, Eva-Juliane ^{[2
]}

Foerster, Toni M. ^{[1
]}

Usnich, Tatiana ^{[2
]}

Curado, Filipa ^{[1
]}

Brueggemann, Norbert ^{[2
]}

Paul, Jefri ^{[1
]}

Bogdanovic, Xenia ^{[1
]}

Zuelbahar, Selen ^{[1
]}

Olmedillas, Maria ^{[1
]}

Skobalj, Snezana ^{[1
]}

Ameziane, Najim ^{[1
]}

Bauer, Peter ^{[1
]}

Csoti, Ilona ^{[3
]}

Koleva-Alazeh, Natalia ^{[3
]}

Grittner, Ulrike ^{[1
]}

Westenberger, Ana ^{[1
]}

Kasten, Meike ^{[2
]}

Beetz, Christian ^{[1
]}

Klein, Christine ^{[2
]}

Rolfs, Arndt ^{[1
]}

机构：

[1] CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany

[2] Univ Lubeck, Inst Neurogenet, Lubeck, Germany

[3] Gertrudisklin Biskirchen, Parkinson Ctr, Leun, Germany

来源：

MOVEMENT DISORDERS | 2021年 / 36卷 / 04期

关键词：

Parkinson's disease; observational clinical study; genetic factors; LRRK2; GBA; GLUCOCEREBROSIDASE GENE; MUTATIONS; PENETRANCE;

D O I：

10.1002/mds.28416

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background Genetic stratification of Parkinson's disease (PD) patients facilitates gene-tailored research studies and clinical trials. The objective of this study was to describe the design of and the initial data from the Rostock International Parkinson's Disease (ROPAD) study, an epidemiological observational study aiming to genetically characterize similar to 10,000 participants. Methods Recruitment criteria included (1) clinical diagnosis of PD, (2) relative of participant with a reportable LRRK2 variant, or (3) North African Berber or Ashkenazi Jew. DNA analysis involved up to 3 successive steps: (1) variant (LRRK2) and gene (GBA) screening, (2) panel sequencing of 68 PD-linked genes, and (3) genome sequencing. Results Initial data based on the first 1360 participants indicated that the ROPAD enrollment strategy revealed a genetic diagnostic yield of similar to 14% among a PD cohort from tertiary referral centers. Conclusions The ROPAD screening protocol is feasible for high-throughput genetic characterization of PD participants and subsequent prioritization for gene-focused research efforts and clinical trials. (c) 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society.

引用

页码：1005 / 1010

页数：6

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