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Mitochondrial protein associated neurodegeneration – Case report

Authors
Journal
Neurologia i Neurochirurgia Polska
0028-3843
Publisher
Elsevier
Volume
48
Issue
1
Identifiers
DOI: 10.1016/j.pjnns.2013.09.002
Keywords
  • Mitochondrial Protein Associated Neurodegeneration
  • Mitochondrial Protein Associated Neurodegeneration (Mpan)
  • Neurodegeneration With Brain Iron Accumulation (Nbia)
  • C19Orf12
Disciplines
  • Biology
  • Medicine

Abstract

Abstract Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. We present the case of a 31-year-old woman with mitochondrial protein associated neurodegeneration (MPAN). MPAN is a new identified subtype of NBIA, caused by mutations in C19orf12 gene. The typical features are speech and gait disturbances, dystonia, parkinsonism and pyramidal signs. Common are psychiatric symptoms such as impulsive or compulsive behavior, depression and emotional lability. In almost all cases, the optic atrophy has been noted and about 50% of cases have had a motor axonal neuropathy. In the MRI on T2- and T2*-weighted images, there are hypointense lesions in the globus palidus and substantia nigra corresponding to iron accumulation.

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