Mitochondrial protein-associated neurodegeneration (MPAN)
NBIA
Neurodegeneration with Brain Iron Accumulation (NBIA) is a collective term for a group of disorders marked by extrapyramidal symptoms and abnormal iron deposition in the deep basal ganglia. More than 10 genes are associated with NBIA, among which Mitochondrial Protein-Associated Neurodegeneration (MPAN) accounts for 10% of NBIA cases.
Clinical findings
MPAN is characterized by dementia, psychiatric disturbances, and motor neuropathy across a broad age range. The typical onset age ranges from 4 to 30 years, with an average onset at 11 years.
Iron deposition in globus pallidi
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Globus pallidus
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Substantia nigra
Iron deposition in the bilateral globus pallidi and substantia nigra is observed in most cases of MPAN.
Medial medullary lamina hyperintensity
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Globus pallidusMedial medullary lamina
Unlike Pantothenate kinase-associated neurodegeneration (PKAN), the "eye of the tiger" sign is not observed. However, linear hyperintensity between the internal and external segments of the globus pallidus, specifically in the area of the medial medullary lamina, is occasionally seen.