CADASIL: A NOTCH3-associated cerebral small vessel disease.

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  • Additional Information
    • Source:
      Publisher: Cairo University, production and hosting by Elsevier B. V Country of Publication: Egypt NLM ID: 101546952 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2090-1224 (Electronic) Linking ISSN: 20901224 NLM ISO Abbreviation: J Adv Res Subsets: MEDLINE
    • Publication Information:
      Original Publication: [Giza, Egypt] : Cairo University, production and hosting by Elsevier B. V.
    • Subject Terms:
      CADASIL*/genetics ; CADASIL*/metabolism ; Receptor, Notch3*/genetics ; Receptor, Notch3*/metabolism ; Cerebral Small Vessel Diseases*/genetics ; Mutation*; Humans
    • Abstract:
      Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease (CSVD), pathologically characterized by a non-atherosclerotic and non-amyloid diffuse angiopathy primarily involving small to medium-sized penetrating arteries and leptomeningeal arteries. In 1996, mutation in the notch receptor 3 gene (NOTCH3) was identified as the cause of CADASIL. However, since that time other genetic CSVDs have been described, including the HtrA serine peptidase 1 gene-associated CSVD and the cathepsin A gene-associated CSVD, that clinically mimic the original phenotype. Though NOTCH3-associated CSVD is now a well-recognized hereditary disorder and the number of studies investigating this disease is increasing, the role of NOTCH3 in the pathogenesis of CADASIL remains elusive.
      Aim of Review: This review aims to provide insights into the pathogenesis and the diagnosis of hereditary CSVDs, as well as personalized therapy, predictive approach, and targeted prevention. In this review, we summarize the current progress in CADASIL, including the clinical, neuroimaging, pathological, genetic, diagnostic, and therapeutic aspects, as well as differential diagnosis, in which the role of NOTCH3 mutations is highlighted.
      Key Scientific Concepts of Review: In this review, CADASIL is revisited as a NOTCH3-associated CSVD along with other hereditary CSVDs.
      Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
      (Copyright © 2024. Published by Elsevier B.V.)
    • Contributed Indexing:
      Keywords: CADASIL; Hereditary cerebral small vessel disease; NOTCH3; Predictive approach; Targeted prevention
    • Accession Number:
      0 (Receptor, Notch3)
      0 (NOTCH3 protein, human)
    • Publication Date:
      Date Created: 20240104 Date Completed: 20241207 Latest Revision: 20241209
    • Publication Date:
      20241210
    • Accession Number:
      10.1016/j.jare.2024.01.001
    • Accession Number:
      38176524