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

This case report describes a 43-year-old female with a heterozygous mutation in the HTRA1 gene (905G>A, Arg302Gln) who exhibited all typical features of CARASIL, including baldness, recurrent ischemic strokes, lumbago, headache, and dementia, along with severe clinical symptoms and rapid progression. Despite heterozygous mutations usually being non-pathogenic or causing milder symptoms, this patient experienced significant cognitive decline, motor function loss, and was bedridden for over a year. The findings suggest that heterozygous mutations in HTRA1 can also result in typical CARASIL features, expanding the understanding of the disease.