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

baldness HTRA1 CARASIL cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

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.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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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Research cited in this study

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research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease: CARASIL in an Arabic Woman

3 citations , December 2022 in “The Neurologist”

This report presents the first documented case of CARASIL in an Arabic patient and notes unique magnetic resonance spectroscopy findings compared to prior cases.

research A Frameshift Mutation in HTRA1 Expands CARASIL Syndrome and Peripheral Small Arterial Disease to the Chinese Population

21 citations , March 2015 in “Neurological Sciences”

This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.