Mitochondrial membrane protein associated neurodegeneration

Mitochondrial membrane protein associated neurodegeneration (MPAN) is an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA).

Lower limb spacity, dysarthria, dysphagia, dystonia, neuropsychiatric symptoms, optic atrophy, Parkinsonism and cognitive decline 1.

MPAN is caused by mutations in C19orf12 gene, leading to iron accumulation in the globus pallidus and substantia nigra, gliosis and neuronal loss. Cortical and cerebellar atrophy may be seen 1.

MRI

Iron accumulation (hypointense signal on T2* and GRE) in the globus pallidus and substantia nigra 1,2.

A distinctive finding is a linear T2 hyperintensity in the medial medullary lamina between globus pallidus interna and externa, with absence of eye of the tiger sign (rarefaction of the central globus pallidus) 2.

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Article Information

rID: 50277
Section: Pathology
Tags: nbia, mpan, refs, cases
Synonyms or Alternate Spellings:
  • Mitochondrial membrane protein associated neurodegeneration (MPAN)

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