case_images: PMC10547585_01
case_images: Hair and MRI of the patient. Hair of the patient (A). T2W and flair images revealed diffuse white matter lesions and ischemic infarctions (B and C). SWI showed microbleeds in the brain parenchyma (D). MRA showed normal intracranial arteries (E) and carotid arteries (F). T2W image showed lumbar disc herniation and degenerative lesions (G).
case_images: fgene-14-1235650-g001.jpg
case_images: PMC10547585_01_fgene-14-1235650-g001.jpg
case_images: F1
case_images: After admission, she went through physical examinations which revealed normal blood pressure and thinning hair particularly on the crown of her head (Figure 1A). Diffuse white matter lesions, infarctions, and microbleeds were observed in the magnetic resonance imaging (MRI) of her brain (Figures 1B-D). Meanwhile, magnetic resonance arterial imaging exhibited fundamental normalcy (Figures 1E, F). Lumbar spine MRI revealed the presence of lumbar disc herniation and degenerative lesions (Figure 1G).
case_images: Pedigree and sequencing results of the family. Pedigree of the family (A). Square, male; circle, female; diagonal black line, deceased individual; center dot symbol, individual with atypical and mild clinical symptoms; full black-filled symbol, individual affected by typical and severe clinical symptoms; empty symbol, clinically healthy relative; triangle, individuals with heterozygous mutation; asterisk, members undergoing genetic testing; arrow, proband. The heterozygous mutation of G905A in HTRA1 was detected in the patient (B) and her mother (C). Her two daughters were normal (D and E).
case_images: fgene-14-1235650-g002.jpg
case_images: PMC10547585_01_fgene-14-1235650-g002.jpg
case_images: F2
case_images: The pedigree is shown in Figure 2A. A heterozygous missense mutation c.905G>A (p.Arg302Gln) was detected (Figure 2B), and the variant was likely pathogenic according to the ACMG classification. Her mother carried the same mutation (Figure 2C) but her two daughters did not (Figures 2D, E).
case_images: Time axis of patient's clinical symptoms and relevant therapies. IS, ischemic stroke.
case_images: fgene-14-1235650-g003.jpg
case_images: PMC10547585_01_fgene-14-1235650-g003.jpg
case_images: F3
case_images:  Figure 3 displays a temporal axis depicting the patient's clinical symptoms and the corresponding therapies administered to her.