A Specific Diplotype H1jH2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia
المؤلفون المشاركون
Razine, Rachid
Bouslam, Naima
Tibar, Houyam
Smaili, Imane
Hajjaj, Imane
Salmi, Ayyoub
Moussa, Ahmed
Regragui, Wafa
Bouhouche, Ahmed
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-12-04
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease.
Five to ten percent of patients have monogenic form of the disease, while most of sporadic PD cases are caused by the combination of genetic and environmental factors.
Microtubule-associated protein tau (MAPT) has been appointed as one of the most important risk factors for several neurodegenerative diseases including PD.
MAPT is characterized by an inversion in chromosome 17 resulting in two distinct haplotypes H1 and H2.
Studies described a significant association of MAPT H1j subhaplotype with PD risk, while H2 haplotype was associated with Parkinsonism, particularly to its bradykinetic component.
We report here an isolated case displaying an akinetic-rigid form of PD, with age of onset of 41 years and a good response to levodopa, who developed dementia gradually during the seven years of disease progression.
The patient does not carry the LRRK2 G2019S mutation, copy number variations, nor pathogenic and rare variants in known genes associated with PD.
MAPT subhaplotype genotyping revealed that the patient has the H1j/H2 diplotype, his mother H1j/H1j, his two healthy brothers H1j/H1v and his deceased father was by deduction H1v/H2.
The H1j/H2 diplotype was shown in a total of 3 PD patients among 80, who also did not have known PD-causing mutation and in 1 out of 92 healthy individual controls.
The three patients with this diplotype all have a similar clinical phenotype.
Our results suggest that haplotypes H1j and H2 are strong risk factor alleles, and their combination could be responsible for early onset of PD with dementia.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Smaili, Imane& Hajjaj, Imane& Razine, Rachid& Tibar, Houyam& Salmi, Ayyoub& Bouslam, Naima…[et al.]. 2020. A Specific Diplotype H1jH2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147275
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Smaili, Imane…[et al.]. A Specific Diplotype H1jH2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia. Case Reports in Genetics No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1147275
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Smaili, Imane& Hajjaj, Imane& Razine, Rachid& Tibar, Houyam& Salmi, Ayyoub& Bouslam, Naima…[et al.]. A Specific Diplotype H1jH2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147275
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147275
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر