TABLE 1.

Results of MRI in cases with APBD.

Case	Age (years)	Image location	Summary of MRI findings
Case 1	52.7	Lumbar spine	Multilevel discogenic and facet hypertrophic degenerative change with mild central canal and foraminal stenosis
	53.2	Brain	Moderate diffuse cerebral volume loss and marked diffuse cerebellar volume loss. Diffuse confluent signal abnormality in the supratentorial white matter, brainstem, middle cerebellar peduncles, and bilateral cerebral hemispheres with signal abnormalities extending into the cervical spine. Prominent linear susceptibility artifact in right greater than left cerebral peduncles
	53.2	Brain MRA	Infundibulum at the origin of the left inferolateral trunk. Subtle contour irregularity of the vertical portion of the left vertebral artery at the C2 level
	53.2	Brain	Stable diffuse severe FLAIR hyperintensity throughout supratentorial and infratentorial white matter. Abnormal T2/FLAIR signals in the brainstem most pronounced at the cerebral peduncles and centrally within the medulla and pyramids. Mild supratentorial volume loss and severe cerebellar and brainstem volume loss
	53.2	Cervical spine	Small spinal cord with signal abnormalities. Disc herniation causing narrowing of the canal at C6–C7. Abnormal tortuous vasculature in dorsal paraspinal soft tissue
	53.2	Thoracic spine	Diffusely small spinal cord with abnormal signals. Hemangiomas within multiple vertebral bodies. Abnormal tortuous vasculature of the paraspinal soft tissues
	53.2	Lumbar spine	Multilevel degenerative change most prominent at L3–L4 and L4–L5. Large extraspinal synovial cysts at L3–L4 larger than those reported in prior studies
Case 2	62.0	Cervical spine	Mild cervical spondyloarthropathy at C4–C5 and C5–C6. Atrophy of the brainstem, cerebellum, and cervical cord
	62.0	Thoracic spine	Moderately severe S-shaped scoliosis and moderate generalized atrophy of the thoracic cord
	62.0	Lumbar spine	Moderate dextrorotatory scoliosis of the mid-to-upper lumbar spine. Multilevel lumbar disc desiccation and degeneration. Small L3–L4 and L5–S1 disc protrusions contributing to foraminal stenosis. Small posterior central L5–S1 disc protrusion
	63.9	Brain	Confluent T2/FLAIR hyperintensities throughout the supratentorial and infratentorial white matter, extending to the juxtacortical regions including the anterior temporal lobes. Severe atrophy of the midline cerebellum with milder cerebellar atrophy. Atrophy of the midbrain/medulla with relative sparing of the pons. Cervical spinal cord atrophy as previously demonstrated. Moderate diffuse cortical atrophy. Hemosiderin signals in the bilateral pallidum, red nucleus, and dentate nuclei
	64.7	Brain	Extensive confluent signal abnormality in bilateral cerebral white matter with volume loss. No significant change from prior studies. T1 hypointensity in bilateral parietal and occipital white matter and along the cortical spinal tracts. Moderate atrophy of cerebral and cerebellar hemispheres. Disproportionate atrophy of the brainstem and cerebellar vermis
Case 3	60.6	Brain	Severe patchy and confluent T2/FLAIR hyperintensities in the periventricular, deep, and subcortical white matter bilaterally with involvement of the pons. Parenchymal volume loss with enlargement of the ventricles greater than sulci
	60.9	Brain	Extensive signal abnormality in bilateral cerebellar hemispheres, mostly confluent, but also more focal areas of signal abnormality. Some are associated with cystic changes. The region of the cerebellar dentate nuclei is markedly abnormal. Marked atrophy of the cervical spinal cord, cerebellar vermis and tonsils, medulla, and portions of the cerebellar hemispheres
	60.9	Cervical and thoracic spine	Marked spinal cord thinning. Mild spondylosis. Lumbar scoliosis
	63.0	Pelvis	No pathology
	64.4	Right hip	Degenerative anterior superior and superior labral tear. Partial tear of the gluteus minimus tendon. Hamstring tendinosis
	64.4	Cervical, thoracic, and lumbar spine	Diffuse atrophy of the spinal cord, slightly progressive from prior studies. Severe atrophy of the medulla. Multilevel degenerative changes in the cervical spine with mild canal narrowing and right foramen at the C5–C6 level. Multilevel degenerative changes in the lumbar spine
Case 4	31.0	Brain	Small hyperintense foci in the subcortical and periventricular areas on T2/FLAIR
Case 5	50.0	Brain	Severe patchy and confluent T2/FLAIR hyperintensities in the periventricular, deep, and subcortical white matter bilaterally with involvement of the pons. Parenchymal volume loss with the enlargement of the ventricles greater than sulci
Case 6	47.0	Brain	Periventricular white matter abnormalities characterized by confluent T2/FLAIR hyperintensities throughout the supratentorial compartment with cerebellar atrophy predominantly on vermis and thin corpus callosum
Case 7	72.0	Brain and spine	Diffuse, confluent, and multifocal leukoencephalopathy with profound periventricular predominance sparing U-fibers with moderate atrophy of the brainstem with hummingbird sign and global cerebellar atrophy

MRA, magnetic resonance angiography.