case_images: PMC10987758_01
case_images: Pedigree.
case_images: fneur-15-1362013-g001.jpg
case_images: PMC10987758_04_fneur-15-1362013-g001.jpg
case_images: fig1
case_images: The GFAP variant was confirmed in the proband and investigated in the mother (II:3, Figure 1) and in the grandmother (I:4, Figure 1) by Sanger sequencing. This analysis identified the substitution also in the mother, but not in the healthy grandmother (Figure 1, pedigree).
case_images: PMC10987758_02
case_images: PMC10987758_03
case_images: Pedigree.
case_images: fneur-15-1362013-g001.jpg
case_images: PMC10987758_04_fneur-15-1362013-g001.jpg
case_images: fig1
case_images: The GFAP variant was confirmed in the proband and investigated in the mother (II:3, Figure 1) and in the grandmother (I:4, Figure 1) by Sanger sequencing. This analysis identified the substitution also in the mother, but not in the healthy grandmother (Figure 1, pedigree).
case_images: On the left (1a, 2a, 3a), we show T2-hyperintense symmetric periventricular lesions (red-filled arrows) in both mother and daughter. In (2a), we can see T2-hyperintensities in the basal ganglia (empty arrow) of the daughter, less evident in her MRI follow-up in 2023 (3a). On the central column (1b, 2b, 3b), widespread atrophy of the cerebellar vermis is evident in both mother and daughter (1b, 2b), without evident worsening in the follow-up MRI (3b) in the daughter. T2-hyperintensities around the IV ventricle (thin black arrows) are more pronounced in the daughter than the mother, maybe due to a higher cerebellar vermis atrophy. On the right (1c, 2c, 3c), in the sagittal images, we can see prominent atrophy of the cerebellum, brainstem (with spare of pons) and cervical spinal cord. All MRI sequences are FLAIR, apart from (1c) (T1).
case_images: fneur-15-1362013-g002.jpg
case_images: PMC10987758_04_fneur-15-1362013-g002.jpg
case_images: fig2
case_images: This MRI evidenced white matter abnormalities around the IV ventricle, more limited white matter abnormalities in the supratentorial periventricular area, and pial T2-hyperintensities were described in the brainstem and cerebellum; a severe atrophy of the brainstem, cerebellum (especially the vermis), and cervical spinal cord was described (Figure 2).
case_images: PMC10987758_04
case_images: Pedigree.
case_images: fneur-15-1362013-g001.jpg
case_images: PMC10987758_04_fneur-15-1362013-g001.jpg
case_images: fig1
case_images: The GFAP variant was confirmed in the proband and investigated in the mother (II:3, Figure 1) and in the grandmother (I:4, Figure 1) by Sanger sequencing. This analysis identified the substitution also in the mother, but not in the healthy grandmother (Figure 1, pedigree).
case_images: On the left (1a, 2a, 3a), we show T2-hyperintense symmetric periventricular lesions (red-filled arrows) in both mother and daughter. In (2a), we can see T2-hyperintensities in the basal ganglia (empty arrow) of the daughter, less evident in her MRI follow-up in 2023 (3a). On the central column (1b, 2b, 3b), widespread atrophy of the cerebellar vermis is evident in both mother and daughter (1b, 2b), without evident worsening in the follow-up MRI (3b) in the daughter. T2-hyperintensities around the IV ventricle (thin black arrows) are more pronounced in the daughter than the mother, maybe due to a higher cerebellar vermis atrophy. On the right (1c, 2c, 3c), in the sagittal images, we can see prominent atrophy of the cerebellum, brainstem (with spare of pons) and cervical spinal cord. All MRI sequences are FLAIR, apart from (1c) (T1).
case_images: fneur-15-1362013-g002.jpg
case_images: PMC10987758_04_fneur-15-1362013-g002.jpg
case_images: fig2
case_images: This MRI evidenced white matter abnormalities around the IV ventricle, more limited white matter abnormalities in the supratentorial periventricular area, and pial T2-hyperintensities were described in the brainstem and cerebellum; a severe atrophy of the brainstem, cerebellum (especially the vermis), and cervical spinal cord was described (Figure 2).