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Supplementary Table 1. Summary of MRI abnormalities of our LBSL patients. MRI abnormalities van der Knaap et al. Patient 1 2 3 4 5 6 7 8 2003 Cerebral white Periventricular white matter + + + + + + + + + Deep white matter + + + + + + + + + U-fibers - - - - - - - - - Posterior corpus callosum + + - + + + + + + Anterior corpus callosum +/- - - - - + - + + Posterior limb of internal capsule + + + + + + + + + Corona radiata + + + + + + + + + Cerebellar white matter +/- - + + + + - - + Cerebellar atrophy +/- - - - - - - HP - Pyramidal tracts + + + + + + + + + Medial lemniscus + - - - - + - - - Intraparenchymal trajectories of the + + + + + + + - + + + + + + + - - + +/- - - + + + - - + Superior cerebellar peduncles + + + + + + + - + Middle cerebellar peduncles +/- - - - - - + - - Inferior cerebellar peduncles + + + + + + + - + Anterior spinocerebellar tracts + - - - + + - - - Dorsal columns + NA1 + + NA + + + + Lateral corticospinal tracts + NA1 NA + + + + + + +/- + - + + - NA - - 17- 12- 8-18 3-12 10- 14 2-3 4-5 matter Cerebellum Brain stem trigeminal nerve Mesencephalic trigeminal tracts Transverse pontine fibers Spinal cord Progression of findings Age at MRI (yrs) MRI follow-up 30 20 13 8 11 10 9 1 1 (yrs) Abbreviations: HP= hypoplasia, NA= not available, NA1,= Only sagittal images of the spinal cord available, showing abnormal signal of the dorsal part 1