Are genetic and idiopathic forms of Parkinson's disease the same disease?

Guedes, Leonor Correia; Mestre, Tiago; Outeiro, Tiago F.; Ferreira, Joaquim J.

doi:10.1111/jnc.14902

Cited by 33 publications

(22 citation statements)

References 60 publications

(72 reference statements)

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“…in known genes, (2) confirm PD gene candidates as suggested in previous studies, and/or (3) lead to the identification of novel PD genes. Given that the majority of genetic PD forms resemble idiopathic PD at clinical, neuropathological, and pathophysiological levels; 9,[27][28][29] further understanding of genetic PD through ROPAD may eventually also provide insights into various aspects of idiopathic PD.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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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. 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 ~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. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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“…Truly monogenic forms of PD are very rare and may not represent the same disease processes that occur in idiopathic PD. For instance, PRKN , PINK1 and PARK7 are all genomic regulators of mitochondrial function [ 20 ]. This is important to consider as the majority of laboratory models have focussed on pathways that were identified by monogenic causes of PD [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

The Genetics of Parkinson’s Disease and Implications for Clinical Practice

Day

Mullin

2021

Genes

131

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The genetic landscape of Parkinson’s disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD. We summarise these genetic influences and discuss the implications for therapeutics and clinical trial design.

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“…Parkinsonisms due to an identifiable genetic cause differ from PD, both pathologically and clinically (177); this difference extends to electrophysiological assessments with TMS. CMCT is raised in patients with Parkin mutations (154, 178), implying subtle corticospinal dysfunction not found in PD.…”

Section: Corticospinal Excitability In Parkinsonismsmentioning

confidence: 88%