Neuroferritinopathy
NBIA
Neurodegeneration with Brain Iron Accumulation (NBIA) encompasses a group of disorders marked by extrapyramidal symptoms and abnormal iron deposition in the deep basal ganglia. Among these, Neuroferritinopathy is unique as the only form with autosomal dominant inheritance within the NBIA group.
Clinical manifestations
Neuroferritinopathy is caused by mutations in the ferritin light chain gene, leading to abnormal accumulation in the basal ganglia and cerebellum, which in turn causes extrapyramidal symptoms.
The typical onset occurs in the early 40s, starting with symptoms such as chorea, dystonia, or parkinsonism. Within 5 to 10 years, the condition progresses to systemic manifestations including difficulty in speech, aphagia, motor disturbances, and dementia. Family history often reveals similar manifestations, which are frequently misdiagnosed as Huntington's disease.
Laboratory tests for Neuroferritinopathy typically reveal low serum ferritin levels (≤20 µg/dL), while serum iron, transferrin, and hemoglobin levels are usually within normal ranges.
References
- Ohta, Emiko, and Yoshihisa Takiyama. "MRI findings in neuroferritinopathy." Neurology research international 2012.1 (2012): 197438.
Iron deposition
MRI reveals T2*WI hypointensities in the basal ganglia including substantia nigra and cerebellar dentate nuclei.
Cystic degeneration
T2WI shows hyperintensities equal to CSF in the globus pallidus and putamen, representing cystic degeneration.
Cortical pencil lining
On T2*WI, hypointense signal within the cerebral cortex, reflecting iron deposition, is termed cortical pencil lining. This finding can also be observed in Aceruloplasminemia.