Academic Journal

LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson’s Disease

التفاصيل البيبلوغرافية
العنوان: LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson’s Disease
المؤلفون: Ahmed Bouhouche, Houyam Tibar, Rafiqua Ben El Haj, Khalil El Bayad, Rachid Razine, Sanaa Tazrout, Asmae Skalli, Naima Bouslam, Loubna Elouardi, Ali Benomar, Mohammed Yahyaoui, Wafa Regragui
المصدر: Parkinson's Disease, Vol 2017 (2017)
بيانات النشر: Hindawi Limited, 2017.
سنة النشر: 2017
المجموعة: LCC:Neurology. Diseases of the nervous system
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2090-8083
2042-0080
Relation: https://doaj.org/toc/2090-8083; https://doaj.org/toc/2042-0080
DOI: 10.1155/2017/2412486
URL الوصول: https://doaj.org/article/8adb26575b174d94aee5d9a5851268ea
رقم الانضمام: edsdoj.8adb26575b174d94aee5d9a5851268ea
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20908083
20420080
DOI:10.1155/2017/2412486