Bibliographic Details
| Title: |
Whole exome sequencing in a sample of Egyptian patients with covert cerebral small vessel disease. |
| Authors: |
Aref, Hany, Maged, Mohamed, Roushdy, Tamer, Shokri, Hossam, Hamid, Eman, Cho, Bernard P. H., Markus, Hugh S., Fathy, Mai, El Nahas, Nevine |
| Source: |
Egyptian Journal of Neurology, Psychiatry & Neurosurgery; 2/28/2024, Vol. 60 Issue 1, p1-6, 6p |
| Subject Terms: |
CEREBRAL small vessel diseases, EGYPTIANS, DYSLIPIDEMIA, GENETIC load, FAMILY history (Genealogy), LACUNAR stroke, HYPERTENSION risk factors, MAGNETIC resonance imaging |
| Abstract (English): |
Background: Covert cerebral small vessel disease (cCSVD) is associated with many age-related morbidities with little available data regarding the pathophysiology and role of genetics in it. This study aims to investigate the genetic load in a sample of Egyptian patients with cCSVD. Results: Thirty patients with cCSVD were recruited and underwent cognitive, gait, sphincter assessment, magnetic resonance imaging (MRI) brain, and blood sampling for whole exome sequencing. The mean age for the patients was 65.93 ± 8.8 with male patients representing 63.33% of the studied sample. The major risk factor was hypertension followed by diabetes mellitus, dyslipidaemia, and smoking. The main presenting symptom was cognitive impairment, found in 60% of the patients and the mean duration of symptoms was 2.1 ± 1.12 years. Two out of thirty patients were positive for a known pathogenic gene (NOTCH3 and COL4A1) despite the absence of family history in one representing 6.7% of the entire studied sample. Meanwhile, three patients had variant genes not previously linked to cCSVD. Conclusions: Whole exome sequencing and genetic studying of patients with cCSVD is of utmost importance as the genetic load is underestimated in the Egyptian population. [ABSTRACT FROM AUTHOR] |
| Abstract (Arabic): |
المقال يركز على التحقيق الجيني لمرض الأوعية الدموية الصغيرة المخفية (cCSVD) في عينة من المرضى المصريين باستخدام تسلسل الإكسوم الكامل. شملت الدراسة 30 مريضًا، معظمهم من الذكور، بمتوسط عمر 65.93 عامًا، الذين قدموا أعراضًا مثل ضعف الإدراك واضطرابات المشي. حددت الأبحاث مريضين يحملان طفرات معروفة مسببة للأمراض (NOTCH3 وCOL4A1)، مما يمثل 6.7% من العينة، بينما كان لدى الآخرين طفرات ذات دلالة غير مؤكدة. تسلط النتائج الضوء على نقص التشخيص لعوامل الجينات في cCSVD ضمن السكان المصريين وتؤكد على أهمية الاختبارات الجينية لفهم أفضل والعلاجات المحتملة في المستقبل. [Extracted from the article] |
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