Fig. 1: Changes in brain magnetic resonance (MR) images and results of genetic analysis of ABCD1.
From: In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
A Brain MRI findings. Left: white-matter lesions of the periventricular, frontal lobe and brainstem regions, and the mild atrophy of the cerebrum and cerebellum on the axial T2-weighted brain MR images at the age of 60. Middle: white-matter lesions of the periventricular, frontal lobe and brainstem regions, and the mild atrophy of the cerebrum and cerebellum on the axial fluid-attenuated inversion recovery (FLAIR) brain MR image at the age of 69. Right: white-matter lesions of the periventricular, the frontal lobe and brainstem regions, and the mild atrophy of the cerebral and cerebellum on FLAIR brain MR image at the age of 75. Since the age of 60, there have been no significant changes in the white-matter lesions. The atrophic changes in the cerebrum and cerebellum progressed slightly. B Direct nucleotide sequence analysis of the region where the variant was detected. The hemizygous variant c.1469_71delTGG (p.Val490del) in ABCD1 was identified. C Comparison of amino-acid sequences around the variant p.Val490del in ABCD1 among species. The amino-acid sequences around the variant p.Val490del in ABCD1 were fairly preserved among species up to zebrafish. *, Xenopus tropicalis.
