PMC5925604_01
Pedigree of the present family and the variant screening diagrams. The proband is indicated by an arrow. Black indicates affected. Squares indicate males. Circles indicate females.
fneur-09-00271-g001.jpg
PMC5925604_02_fneur-09-00271-g001.jpg
F1
His 45-year-old mother (Figure 1, II-2) had the similar manifestations, which initially occurred at the age of 25 years. His grandparents (I-1 and I-2), uncle (II-1), and father (II-3) (Figure 1) do not have any clinical abnormalities or increased plasma VLCFA.
Brain magnetic resonance imaging (MRI) findings. No signal changes are seen in the axial T2-weighed brain MRI of the proband (A) and his mother (D). Sagittal T2-weighed brain MRI of the proband (B,C) and his mother (E,F) shows manifest cerebellar atrophy (yellow arrow). White matter hyperintensity (red arrow) is also evident in cerebellum of the proband (C).
fneur-09-00271-g002.jpg
PMC5925604_02_fneur-09-00271-g002.jpg
F2
His 45-year-old mother (Figure 1, II-2) had the similar manifestations, which initially occurred at the age of 25 years. The adrenal function, sphincter function, peripheral nerves, dorsal column, and cerebral white matter were spared, without any detectable disturbances (Figure 2).
PMC5925604_02
Pedigree of the present family and the variant screening diagrams. The proband is indicated by an arrow. Black indicates affected. Squares indicate males. Circles indicate females.
fneur-09-00271-g001.jpg
PMC5925604_02_fneur-09-00271-g001.jpg
F1
His 45-year-old mother (Figure 1, II-2) had the similar manifestations, which initially occurred at the age of 25 years. His grandparents (I-1 and I-2), uncle (II-1), and father (II-3) (Figure 1) do not have any clinical abnormalities or increased plasma VLCFA.
Brain magnetic resonance imaging (MRI) findings. No signal changes are seen in the axial T2-weighed brain MRI of the proband (A) and his mother (D). Sagittal T2-weighed brain MRI of the proband (B,C) and his mother (E,F) shows manifest cerebellar atrophy (yellow arrow). White matter hyperintensity (red arrow) is also evident in cerebellum of the proband (C).
fneur-09-00271-g002.jpg
PMC5925604_02_fneur-09-00271-g002.jpg
F2
His 45-year-old mother (Figure 1, II-2) had the similar manifestations, which initially occurred at the age of 25 years. The adrenal function, sphincter function, peripheral nerves, dorsal column, and cerebral white matter were spared, without any detectable disturbances (Figure 2).