Beta-propeller protein-associated neurodegeneration (BPAN)
Neurodegenerative diseases
NBIA
Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) disease, accounting for less than 10% of NBIA cases.
BPAN
BPAN is caused by mutations in the WDR45 gene, which is related to autophagy. This genetic alteration results in mental retardation during childhood, progressing into dystonia and parkinsonism in adulthood.
Iron deposition
Non-SOL
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Globus pallidus
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Substantia nigra
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Cerebral peduncle
When parkinsonism appears in BPAN, T2WI reveals hypointensity in the globus pallidi, substantia nigra, and cerebral peduncles, reflecting iron deposition. T1WI shows hyperintensities in the corresponding regions.
Atrophy
Non-SOL
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Cerebrum
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Cerebellum
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Corpus callosum
Atrophy is observed in the bilateral cerebral and cerebellar hemispheres, in addition to the corpus callosum.