npj Parkinson's Disease (Nov 2024)
The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease
- Martina B. William,
- Sharifa Hamed,
- Ali Shalash,
- Eman M. Khedr,
- Mohamed H. Yousef,
- Shaimaa El-Jaafary,
- Gharib Fawi,
- Asmaa Helmy,
- Eman Hamid,
- Mohamed Essam,
- Hamin Lee,
- Alina Jama,
- Mohamed Koraym,
- Doaa M. Mahmoud,
- Sara Elfarrash,
- Yasmin Elsaid,
- Asmaa S. Gabr,
- Nourhan Shebl,
- Nesreen Abdelwahhab,
- Tamer M. Belal,
- Nehal A. B. Elsayed,
- Mohamed El-Gamal,
- Shimaa Elgamal,
- Salma Ragab,
- Jaidaa Mekky,
- Lobna Aly,
- Samir Nabhan,
- Gaafar Ragab,
- Mohamed A. Hussein,
- Mohamed Tharwat Hegazy,
- Henry Houlden,
- Mohamed Salama,
- Mie Rizig
Affiliations
- Martina B. William
- Institute of Global Health and Human Ecology, The American University in Cairo
- Sharifa Hamed
- Department of Neurology, Faculty of Medicine, Assiut University
- Ali Shalash
- Department of Neurology, Faculty of Medicine, Ain Shams University
- Eman M. Khedr
- Department of Neurology, Faculty of Medicine, Assiut University
- Mohamed H. Yousef
- Institute of Global Health and Human Ecology, The American University in Cairo
- Shaimaa El-Jaafary
- Department of Neurology, Faculty of Medicine, Cairo University
- Gharib Fawi
- Department of Neurology, Faculty of Medicine, Sohag University
- Asmaa Helmy
- Department of Neurology, Faculty of Medicine, Ain Shams University
- Eman Hamid
- Department of Neurology, Faculty of Medicine, Ain Shams University
- Mohamed Essam
- Department of Neurology, Faculty of Medicine, Ain Shams University
- Hamin Lee
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL
- Alina Jama
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL
- Mohamed Koraym
- Department of Neurology, Faculty of Medicine, Assiut University
- Doaa M. Mahmoud
- Department of Neurology, Faculty of Medicine, Assiut University
- Sara Elfarrash
- Department of Medical Physiology, Faculty of Medicine, Mansoura University
- Yasmin Elsaid
- Department of Neurology, Faculty of Medicine, Mansoura University
- Asmaa S. Gabr
- Institute of Global Health and Human Ecology, The American University in Cairo
- Nourhan Shebl
- Institute of Global Health and Human Ecology, The American University in Cairo
- Nesreen Abdelwahhab
- Department of Neurology, Faculty of Medicine, Mansoura University
- Tamer M. Belal
- Department of Neurology, Faculty of Medicine, Mansoura University
- Nehal A. B. Elsayed
- Department of Neurology, Mansoura International Hospital
- Mohamed El-Gamal
- Department of Forensic Medicine and Clinical Toxicology, Faculty of Medicine, Mansoura University
- Shimaa Elgamal
- Department of Neuropsychiatry, Faculty of Medicine, Kafrelsheikh University
- Salma Ragab
- Department of Neuropsychiatry, Faculty of Medicine, Kafrelsheikh University
- Jaidaa Mekky
- Department of Neurology, Faculty of Medicine, Alexandria University
- Lobna Aly
- Department of Neurology, Faculty of Medicine, Alexandria University
- Samir Nabhan
- Institute of Global Health and Human Ecology, The American University in Cairo
- Gaafar Ragab
- Department of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University
- Mohamed A. Hussein
- Department of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University
- Mohamed Tharwat Hegazy
- Department of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University
- Henry Houlden
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL
- Mohamed Salama
- Institute of Global Health and Human Ecology, The American University in Cairo
- Mie Rizig
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL
- DOI
- https://doi.org/10.1038/s41531-024-00826-8
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 9
Abstract
Abstract The impact of LRRK2 variants on the risk of Parkinson’s disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Young and Early-onset PD prevalence was 37.5% in carriers and 33% in non-carriers. Familial cases were 16.6% in carriers and 11.5% in non-carriers. This study affirms that like other Mediterranean populations, Egyptians with PD have a higher prevalence of the p.Gly2019Ser variant compared to the global average. LRRK2 inhibitors could be promising therapeutic options for further exploration in this population.
