PMC10359490_01
Family pedigree and brain MRI scan. (A) Family pedigree. (B) Brain MRI scan from patient V:1 showed cerebellar atrophy (arrow), reduced volume of the cerebellum (asterisk), widening of the posterior cranial fossa (double arrow), periventricular leukopathy (not shown).
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F1
MRI revealed cerebellar atrophy and periventricular leukopathy (Figure 1B).
PMC10359490_02