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.

Share article

Article information

rID: 55376
Synonyms or Alternate Spellings:
  • MPAN

Support Radiopaedia and see fewer ads

Updating… Please wait.

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.