Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
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
_version_ 1782521481192800256
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
work_keys_str_mv AT bouhoucheahmed lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT tibarhouyam lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT benelhajrafiqua lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT elbayadkhalil lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT razinerachid lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT tazroutsanaa lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT skalliasmae lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT bouslamnaima lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT elouardiloubna lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT benomarali lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT yahyaouimohammed lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease
AT regraguiwafa lrrk2g2019smutationprevalenceandclinicalfeaturesinmoroccanswithparkinsonsdisease