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    Exploring HTRA1-Autosomal Dominant Disease: Literature Review of Clinical Features and Molecular Mechanisms

    • Yi-Juan Li
    • Yicheng Zhu
    • Ming Yao


    Abstract

    Heterozygous HTRA1-autosomal dominant disease is a gradually recognized hereditary cerebral small vessel disease (cSVD) characterized by debilitating conditions and extensive white matter hyperintensities (WMHs), but doubts remain on the underlying mechanisms of this disease. This review summarizes the clinical, MRI, and molecular genetics features of heterozygous HTRA1-autosomal dominant disease in combination with two better-studied hereditary cSVDs. A total of 31 mutations in HTRA1-autosomal dominant cases documented between 2020 and 2023 were also reviewed, characterizing the mutation features and clinical manifestations. This review aims to gain better insight into the unique characteristics of the disease and its correlations with other hereditary cSVDs.

    Keywords: Heterozygous HTRA1 mutation CARASIL
    Section

    References

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    How to Cite

    Li, Yi-Juan, et al. “Exploring HTRA1-Autosomal Dominant Disease: Literature Review of Clinical Features and Molecular Mechanisms”. Human Brain, vol. 2, no. 2, May 2023, doi:10.37819/hb.2.1770.
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    DOI: https://doi.org/10.37819/hb.2.1770

    Published: 2023-05-20

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