SUPPLEMENTARY MATERIAL - Lippincott Williams & Wilkins



Supplementary Figure 1. CoPAN, KRD, SCP2, GLB1, AP4M1

CoPAN. FLAIR image showing hyperintensity and swelling of thalamus (arrow), caudate nucleus (arrowhead), and putamen (adapted from [63])

SCP2 pathogenic variants. Left: T2-weighted image showing hypersignal in the pons (arrow); Middle: T2-weighted image showing hypersignal in the thalamus (arrow) globus pallidus (arrowhead) and posterior white matter (double arrowheads); Right: SWI showing signal decrease in the globus pallidus (adapted from [66]).

Kufor Rakeb Disease. Left image: Sagittal T1-weighted MRI showing severe infratentorial and supratentorial brain volume loss; Right image: Axial T2*-weighted MRI showing basal ganglia hypointensities bilaterally (arrow, adapted from [60])

GM1 gangliosidosis. Axial SWI image showing low signal in the bilateral globus pallidus due to iron deposition presenting the shape of a wish bone, wherein the medial and lateral part of the globus pallidus make the forked ends and the downward extension form the stem of the wish bone (arrow, adapted from [67]).

AP4-deficiency syndrome. Axial SWI image showing bilateral hypointensity of the globus pallidus (arrow, adapted from [69])

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