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<p>This review article focuses on current and emerging therapeutics for CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). CADASIL is a genetic vascular disease characterized by mutations in the NOTCH3 gene, which disrupts small cerebral blood vessels and leads to strokes and neurological decline. This article discusses how NOTCH3 mutations alter cysteine residues in the protein's extracellular domain, contributing to the disease's underlying pathology. It highlights promising disease-modifying approaches such as gene editing, cell therapies, and immune-based strategies. Ongoing clinical trials, recent patents, diagnostic methods, and molecular mechanisms related to CADASIL and its prospective treatments are also described. Finally, the article highlights the translational potential of current research and experimental models, aiming to provide a comprehensive overview of promising therapies to improve long-term outcomes.</p> Graphical abstract <p></p>

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): potential therapeutic approaches

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月20日

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  • Sierra Haile,
  • Benjamin C. Balzer,
  • Emily Egan,
  • Cheryl L. Jorcyk,
  • Nilufar Ali

摘要

This review article focuses on current and emerging therapeutics for CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). CADASIL is a genetic vascular disease characterized by mutations in the NOTCH3 gene, which disrupts small cerebral blood vessels and leads to strokes and neurological decline. This article discusses how NOTCH3 mutations alter cysteine residues in the protein's extracellular domain, contributing to the disease's underlying pathology. It highlights promising disease-modifying approaches such as gene editing, cell therapies, and immune-based strategies. Ongoing clinical trials, recent patents, diagnostic methods, and molecular mechanisms related to CADASIL and its prospective treatments are also described. Finally, the article highlights the translational potential of current research and experimental models, aiming to provide a comprehensive overview of promising therapies to improve long-term outcomes.

Graphical abstract