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[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]

Yun-Chung Chen, Cheng-Tsung Hsiao, Bing-Wen Soong

    Acta Neurologica Taiwanica
    |June 4, 2015
    PubMed

    Insights

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic brain disorder. NOTCH3 gene mutations cause CADASIL, leading to strokes, dementia, and MRI abnormalities.

    Area of Science:

    • Neurology
    • Genetics
    • Neuroimaging

    Background:

    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited small vessel disease of the brain.
    • It is caused by mutations in the NOTCH3 gene, leading to a range of neurological and psychiatric symptoms.

    Purpose of the Study:

    • To summarize the genetic basis, clinical manifestations, and neuroimaging features of CADASIL.
    • To highlight the prevalence of specific NOTCH3 mutations and MRI findings in Taiwan.

    Main Methods:

    • Review of existing literature on CADASIL.
    • Analysis of genetic mutations (NOTCH3) and their correlation with clinical and MRI findings.

    Main Results:

    • CADASIL presents with lacunar infarcts, transient ischemic attacks, dementia, migraine with aura, and psychiatric disorders.
    • Brain MRI typically shows multiple lacunar infarcts and leukoencephalopathy, often affecting external capsules and anterior temporal regions.
    • In Taiwan, NOTCH3 p.R544C mutations are common (two thirds of patients), and leukoencephalopathy with anterior temporal involvement is observed in about 56% of cases.

    Conclusions:

    • CADASIL is a significant monogenic cerebrovascular disease with diverse clinical and imaging phenotypes.
    • Understanding the genetic landscape, particularly in specific populations like Taiwan, is crucial for diagnosis and management.

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