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

Authors :
Skrahina V
Gaber H
Vollstedt EJ
Förster TM
Usnich T
Curado F
Brüggemann N
Paul J
Bogdanovic X
Zülbahar S
Olmedillas M
Skobalj S
Ameziane N
Bauer P
Csoti I
Koleva-Alazeh N
Grittner U
Westenberger A
Kasten M
Beetz C
Klein C
Rolfs A
Source :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Apr; Vol. 36 (4), pp. 1005-1010. Date of Electronic Publication: 2020 Dec 14.
Publication Year :
2021

Abstract

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 ~10,000 participants.<br />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.<br />Results: Initial data based on the first 1360 participants indicated that the ROPAD enrollment strategy revealed a genetic diagnostic yield of ~14% among a PD cohort from tertiary referral centers.<br />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. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<br /> (© 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Details

Language :
English
ISSN :
1531-8257
Volume :
36
Issue :
4
Database :
MEDLINE
Journal :
Movement disorders : official journal of the Movement Disorder Society
Publication Type :
Academic Journal
Accession number :
33314351
Full Text :
https://doi.org/10.1002/mds.28416