Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare subtype of neurodegeneration with brain iron accumulation disease (NBIA).

MPAN usually presents before 10 years old. At least one case of late-onset (35 years old) has been reported 3. Less than a hundred of cases have been reported so far and it accounts for approximately 5% of cases of NBIA 1.

Clinical features consist of early onset of gradually worsening varying neurological symptoms that overlap with those of PKAN. Neurological manifestations described include: parkinsonism, muscle atrophy, dysphagia, dysarthria, incontinence, ocular-motor disturbance, incontinence, cerebellar signs, psychiatric disorders, cognitive disorders, etc 1.

MPAN is an autosomal-recessive genetic disorder caused by a mutation of the C19orf12 gene associated with inappropriate brain iron deposition.

The most important findings are seen on T2-WI.

  • T2:
    • hyperintense linear signal in the medial medullary laminae (in-between the segments of the globus pallidus2
    • hypointense signal in the globus pallidus (nonspecific finding suggestive of brain iron deposition) and, albeit less frequent, in the substantia nigra 2
    • nonspecific periventricular hyperintensities 2

The eye of the tiger sign usually associated with PKAN has been described in at least two cases 2.

Cerebellar atrophy has also been described in some cases.

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Article information

rID: 55376
Synonyms or Alternate Spellings:
  • MPAN

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