Ostrozovicova, Miriam;
Tamas, Gertrud;
Atputhavadivel, Agsha;
Dusek, Petr;
Grofik, Milan;
Han, Vladimir;
Holly, Petr;
... Skorvanek, Matej; + view all
(2025)
Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.
Movement Disorders Clinical Practice
10.1002/mdc3.70045.
(In press).
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Abstract
Background: Leucine-rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown. // Objective: The aim was to evaluate the frequency and phenotype of p.L1795F in early-onset PD (EOPD) and familial PD compared to healthy controls (HC) in Central Europe. // Methods: Whole-exome sequencing was used to screen 219 EOPD and familial PD patients of Central Europeans compared to HC. Sanger sequencing assessed segregation. Detailed clinical phenotype was evaluated for all positive carriers. // Results: p.L1795F was identified in 1.37% (3/219) and 3.23% of familial cases (3/93), with no carriers among HCs (0/303). Segregation analysis confirmed association with PD. Carriers were traced to the eastern Slovak–Hungarian region. It also appears to be associated with a more aggressive phenotype. // Conclusion: Our data indicate that p.L1795F contributes to PD in Central Europe. Further exploration in larger cohorts is warranted to establish its contribution to global PD risk.
| Type: | Article |
|---|---|
| Title: | Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/mdc3.70045 |
| Publisher version: | https://doi.org/10.1002/mdc3.70045 |
| Language: | English |
| Additional information: | Copyright © 2025 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, https://creativecommons.org/licenses/by/4.0/, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Leucine-rich repeat kinase 2 (LRRK2), L1795F, Parkinson’s disease, risk factor, mutation, genetics |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10206562 |
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