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Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review

Pavel Dušek1, David Školoudík2, Jan Roth1

  • 1a Department of Neurology, Centre of Clinical Neurosciences, 1st Faculty of Medicine , Charles University and General University Hospital , Prague , Czech Republic.

Neurocase
|August 9, 2018
PubMed

Insights

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare genetic disorder. This study details a unique Czech patient

Area of Science:

  • Neurogenetics
  • Molecular Neurology
  • Rare Diseases

Background:

  • Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare, autosomal recessive neurodegenerative disorder.
  • Mutations in the C19orf12 gene are the known cause of MPAN.
  • MPAN is characterized by progressive neurological deficits and iron accumulation in the brain.
Keywords:
C19orf12 mutationMPANiron accumulationneurodegenerationparkinsonism

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