Identification of genetic alteration and studying resting/active state fMRI and TCD cognitive impairment and role of TMS among Egyptian patients suffering from Cerebral Small Vessels Disease

Summary

Background: Cerebral small vessel disease (SVD) is not a rare entity, moreover, it has different clinical phenotypes. However, its diagnosis and management does not receive much attention. To our knowledge, this is the first comprehensive diagnostic and therapeutic study targeting small vessel disease among Egyptian population.

Objectives: diagnostic objectives: To assess the different SVD phenotypes clinically, risk factors, different biomarkers, the role of different neuroimaging modalities, and to investigate the role of Transcranial Doppler ultrasound in diagnosing small vessel disease. Therapeutic objectives: to assess effect of repetitive transcranial magnetic stimulation (r TMS) on different clinical presentations of SVD.

Methods: 100 Egyptian patients suffering from SVD and large artery disease, will be subjected to Molecular study for  rs12204590, rs1711972 and rs41300825 polymorphisms of FOXF2 gene and rs1043994 and rs3815188 polymorphisms of NOTCH3 gene, Study of the tight junction proteins (Zonula occluden-1, Claudin-5, Pdgfbeta), Biochemical analyses. Radiological: Tractography, MRI volumetric, functional MRI and TCD. Therapeutic and interventional: rTMS will be used to assess its role in improving gait, cognition, depression and urinary scores.

Achievements

List of Publications from the Project

Partners

Project Members

• Eman Hamid Abd ElDayem
• Hossam Shoukry Mohamed
• Tamer Mahmoud ElSayed Roushdy
• Nevine El Nahas

Project Leaders

• Mai Fathy Ahmed Fahmy