Journal of Neurology Research, ISSN 1923-2845 print, 1923-2853 online, Open Access
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Case Report

Volume 000, Number 000, March 2025, pages 000-000


Late-Onset CLCN2-Related Leukodystrophy Associated With A Novel Mutation

Figure

Figure 1.
Figure 1. Axial brain MRI FLAIR sequences (a-c) and T2-weighted sequences (d-f) of the 64-year-old patient. Both axial MRI FLAIR and T2-weighted sequences of the patient demonstrate abnormal hyperintensities in the middle cerebellar peduncles (a, d), cerebral peduncles (b, e) and posterior limb of internal capsule (c, f). This type of leukodystrophy, affecting the white matter of the brain (including the internal capsule and cerebellar peduncles), is observed in patients with CLCN2-related leukoencephalopathy (CC2L). Thus, gene analysis was conducted and confirmed the diagnosis. MRI: magnetic resonance imaging; FLAIR: fluid-attenuated inversion recovery.