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LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease
Background. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson's disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390546/ https://www.ncbi.nlm.nih.gov/pubmed/28465860 http://dx.doi.org/10.1155/2017/2412486 |
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author | Bouhouche, Ahmed Tibar, Houyam Ben El Haj, Rafiqua El Bayad, Khalil Razine, Rachid Tazrout, Sanaa Skalli, Asmae Bouslam, Naima Elouardi, Loubna Benomar, Ali Yahyaoui, Mohammed Regragui, Wafa |
author_facet | Bouhouche, Ahmed Tibar, Houyam Ben El Haj, Rafiqua El Bayad, Khalil Razine, Rachid Tazrout, Sanaa Skalli, Asmae Bouslam, Naima Elouardi, Loubna Benomar, Ali Yahyaoui, Mohammed Regragui, Wafa |
author_sort | Bouhouche, Ahmed |
collection | PubMed |
description | Background. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson's disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2019S mutation in the Moroccan population and we compared the motor and nonmotor phenotype of G2019S carriers to patients with idiopathic Parkinson's disease. Methods. 100 PD patients were assessed for motor and nonmotor symptoms, current medication, and motor complication including motor fluctuations and dyskinesia. The LRRK2 G2019S mutation was investigated by direct sequencing in patients and ethnically matched controls, all of Moroccan origin. Results. Among the 100 PD Moroccan patients, 41 (41%) were carriers of the G2019S mutation. The mutation frequency was higher among probands with autosomal dominant inheritance (76%) than among sporadic ones (28%). Interestingly, G2019S mutation was also found in 5% of control individuals. Clinically, patients carrying the G2019S mutation have more dystonia (OR = 4.6, p = 0.042) and more sleep disorders (OR = 2.4, p = 0.045) than noncarriers. Conclusions. The LRRK2 G2019S prevalence in Morocco is the highest in the world reported to date. Some clinical features in G2019S carriers such as dystonia and sleep disturbances are worth noting. |
format | Online Article Text |
id | pubmed-5390546 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-53905462017-05-02 LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease Bouhouche, Ahmed Tibar, Houyam Ben El Haj, Rafiqua El Bayad, Khalil Razine, Rachid Tazrout, Sanaa Skalli, Asmae Bouslam, Naima Elouardi, Loubna Benomar, Ali Yahyaoui, Mohammed Regragui, Wafa Parkinsons Dis Research Article Background. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson's disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2019S mutation in the Moroccan population and we compared the motor and nonmotor phenotype of G2019S carriers to patients with idiopathic Parkinson's disease. Methods. 100 PD patients were assessed for motor and nonmotor symptoms, current medication, and motor complication including motor fluctuations and dyskinesia. The LRRK2 G2019S mutation was investigated by direct sequencing in patients and ethnically matched controls, all of Moroccan origin. Results. Among the 100 PD Moroccan patients, 41 (41%) were carriers of the G2019S mutation. The mutation frequency was higher among probands with autosomal dominant inheritance (76%) than among sporadic ones (28%). Interestingly, G2019S mutation was also found in 5% of control individuals. Clinically, patients carrying the G2019S mutation have more dystonia (OR = 4.6, p = 0.042) and more sleep disorders (OR = 2.4, p = 0.045) than noncarriers. Conclusions. The LRRK2 G2019S prevalence in Morocco is the highest in the world reported to date. Some clinical features in G2019S carriers such as dystonia and sleep disturbances are worth noting. Hindawi 2017 2017-03-30 /pmc/articles/PMC5390546/ /pubmed/28465860 http://dx.doi.org/10.1155/2017/2412486 Text en Copyright © 2017 Ahmed Bouhouche et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Bouhouche, Ahmed Tibar, Houyam Ben El Haj, Rafiqua El Bayad, Khalil Razine, Rachid Tazrout, Sanaa Skalli, Asmae Bouslam, Naima Elouardi, Loubna Benomar, Ali Yahyaoui, Mohammed Regragui, Wafa LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease |
title |
LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease |
title_full |
LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease |
title_fullStr |
LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease |
title_full_unstemmed |
LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease |
title_short |
LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease |
title_sort | lrrk2 g2019s mutation: prevalence and clinical features in moroccans with parkinson's disease |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390546/ https://www.ncbi.nlm.nih.gov/pubmed/28465860 http://dx.doi.org/10.1155/2017/2412486 |
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