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
    TLDR A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
    A 43-year-old female with a heterozygous mutation in the HTRA1 gene exhibited severe symptoms of CARASIL, including headaches, cognitive decline, ischemic strokes, lumbago, and urinary retention. MRI showed extensive white matter lesions, infarctions, and microbleeds. Over more than 3 years, her condition worsened, leading to motor function loss and bed confinement. This case challenges the belief that heterozygous mutations in HTRA1 are non-pathogenic, suggesting they can cause severe CARASIL symptoms and highlighting the need for further genetic research.
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