Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

    September 2023 in “ Frontiers in Genetics ”
    Yuming Li, Weiping Jia, Tao Xin, Yu-Qing Fang
    Studysummary This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.
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    Research cited in this study 2

    1. When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease: CARASIL in an Arabic Woman The Neurologist · 2022
    2. A Frameshift Mutation in HTRA1 Expands CARASIL Syndrome and Peripheral Small Arterial Disease to the Chinese Population Neurological Sciences · 2015