case_images: PMC11011944_01
case_images: Phenotypic features of family with HDL2: A) Pedigree showing the dominant pattern of inheritance and brain MRI of the proband B) T2 FLAIR sequence showing an hyperintensity in the territory of the left posterior artery cerebral (red circle) and bilateral atrophy of caudate and lenticular nuclei (red and yellow arrows), and C) T1 FLAIR sequence showing a hypo-intensity in superficial territory of the right sylvian artery (white circle). D) Genetic results showing the abnormal CTG repeat expansion (40) in the JPH3 gene.
case_images: tohm-14-1-859-g1.jpg
case_images: PMC11011944_01_tohm-14-1-859-g1.jpg
case_images: F1
case_images: Additionally, cortical and basal ganglia atrophy was seen (Figure 1B and C).
case_images: PMC11011944_02
case_images: PMC11011944_03