Juvenile-onset Mitochondrial-membrane Protein-associated Neurodegeneration with Late Diagnosis
Romana Perkovic1
, Kristina Gotovac Jercic2, Manuela Francic3, David Ozretic4, Fran Borovecki2
1“J.J.Strossmayer” University Osijek, University Hospital Center, Department of Neurology, Osijek, Croatia
2University of Zagreb School of Medicine, Center for Translational and Clinical Research, Department of Functional Genomics; University Hospital Center Zagreb, Department of Neurology, Croatia
3University of Zagreb School of Medicine, Zagreb, Croatia
4University Hospital Center, Department of Radiology, Zagreb, Croatia
Keywords: Mitochondrial protein associated neurodegeneration, neurodegeneration with brain iron accumulation, C19orf12
Abstract
Neurodegeneration with brain iron accumulation (NBIA) encompasses a number of heritable disorders affecting children and adults characterized by diverse clinical manifestations and brain iron deposition detected on magnetic resonance imaging (MRI). The most frequent NBIA subtypes are pantothenate kinase-associated neurodegeneration, phospholipase A2-associated neurodegeneration, fatty acid-2 hydroxylase-associated neurodegeneration and mitochondrial-membrane proteinassociated neurodegeneration (MPAN). Here, we report a male patient presenting with optic atrophy, progressive cognitive and movement impairment, bilateral hypointensity of the basal ganglia on T2-weighted MRI and proven mutation for MPAN. The NBIA disorders can remain undiagnosed for 3 to 30 years. In children developing optic atrophy, NBIA should be taken into consideration.
Written consent was obtained.
Externally peer-reviewed.
Concept: F.B., Analysis or Interpretation: K.G.J., D.O., Literature Search: R.P., M.F., Writing: R.P., M.F.
No conflict of interest was declared by the authors.
Sequencing was provided by University of Zagreb School of Medicine and was funded by Croatian Science Foundation IP-2020-02 Grant, project. Molecular mechanisms of immune response and inflammasome activation in Parkinsons disease.