CADASIL: A Review of Pathophysiology, Clinical Presentation, and Management Options

Ohikhuare Okun^1*, Osahon Rex Igbinomwanhia², Emeriom Aboh³, Omoikhoa Irele-Ifijeh⁴, Illoh Oluchi Ogechukwu³, Mba Nkiruka Ikpo⁵, Igbinomwanhia Osamagbe⁶, Nnekachi Prayer Nnokam⁷

Abstract

This literature review examines the current understanding of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a rare genetic disorder affecting cerebral small vessels. We explore the disease’s pathophysiology, clinical manifestations, and management strategies, highlighting the role of NOTCH3 gene mutations and potential therapeutic approaches. The review aims to provide a comprehensive overview of CADASIL, shedding light on its complexities and informing future research and clinical practice.

Keywords

CADASIL; cerebral small vessel disease; genetic disorder; NOTCH3 gene mutations; pathophysiology; clinical manifestations; management strategies; therapeutic approaches; future research; clinical practice.

Cite This Article

Okun, O., Igbinomwanhia, O. R., Aboh, E., Irele-Ifijeh, O., Illoh, O. O., Ikpo, M. N., Osamagbe, I., Nnokam, N. P. (2025). CADASIL: A Review of Pathophysiology, Clinical Presentation, and Management Options. International Journal of Scientific Advances (IJSCIA), Volume 6| Issue 4: Jul – Aug 2025, Pages 744-746 URL: https://www.ijscia.com/wp-content/uploads/2025/07/Volume6-Issue4-Jul-Aug-No.923-744-746.pdf

Volume 6 | Issue 4: Jul – Aug 2025