Krueger, Clara and Lim, Shen-Yang and Buhrmann, Alissa and Fahrig, Fenja L. and Gabbert, Carolin and Bahr, Natascha and Madoev, Harutyun and Marras, Connie and Klein, Christine and Lohmann, Katja (2025) Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson<acute accent>s disease. NPJ Parkinson's Disease, 11 (1). p. 30. ISSN 2373-8057, DOI https://doi.org/10.1038/s41531-025-00881-9.
Full text not available from this repository.Abstract
Pathogenic variants in the LRRK2 gene are one of the most commonly identifiable monogenic causes of Parkinson<acute accent>s disease (PD, PARK-LRRK2). This systematic MDSGene literature review comprehensively summarizes published demographic, clinical, and genetic findings related to LRRK2 variants (https://www.mdsgene.org/). Data on 4660 individuals with 283 different variants were curated. The median age at onset in the PD patients with available information was 56 years, notably, with approximately one-third having PD onset <50 years. Tremor was the most frequently reported initial symptom and more common than reported in other dominantly inherited forms of PD. Of the 211 potentially PD-causing variants, 25 were classified as pathogenic or likely pathogenic, and the remaining 186 (88.2%) were variants of uncertain significance. p.G2019S was the most frequently reported pathogenic variant, followed by p.R1441G and p.R1441C. This systematic review represents the most extensive database on PARK-LRRK2 to date and provides a vital resource to improve precision medicine.
| Item Type: | Article |
|---|---|
| Funders: | International Parkinson and Movement Disorder Society (Movement Disorder Society), International Parkinson and Movement Disorder Society, Parkinsons Foundation, University of Luebeck, Michael J Fox Foundation |
| Subjects: | R Medicine > R Medicine (General) |
| Divisions: | Faculty of Medicine Faculty of Medicine > Medicine Department |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 30 Apr 2025 07:26 |
| Last Modified: | 30 Apr 2025 07:26 |
| URI: | http://eprints.um.edu.my/id/eprint/47873 |
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