Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12

Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders with accumulation of iron in the brain, mostly basal ganglia. NBIA subtype mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by recently discovered mutations in C19orf12, which encodes a protein localized in the mitochondrial membrane.

The present and past radiological features of 14 MPAN patients were analyzed.

Clinical evaluation did not reveal novel findings: spastic para- and tetraparesis with muscle atrophy are typical for MPAN. Dysarthria, parkinsonism, and dystonia are very common but not present in all cases. Present brain imaging demonstrated increased iron levels in the globus pallidus (GP) and substantia nigra (SN) in all patients. In two cases first imaging didn't show typical hypointensity in GP and SN. A novel finding were white matter hyperintensities localized mainly in the periventricular region.

WMH are observed in some MPAN patients, they are age dependent and localized periventricular. If they are due to altered brain and peripheral lipid metabolism remains unknown.