Neuroferritinopathy, also known as neurodegeneration with brain iron accumulation type 2 (NBIA type 2), is a disorder of iron metabolism caused by a mutation in the ferritin light chain 1 gene (FTL1) on chromosome 19.
Neuroferritinopathy is a rare disorder first described in 2001 in a single family in Northern England .A 2016 review noted 90 cases in the literature .
Patients present with movement disorders .
CT may reveal regions of hypodensity in the basal ganglia, indicative of cystic degeneration .
MRI is the modality of choice for evaluating patients with neuroferritinopathy . Signal changes in the brain include :
- T2/FLAIR: hyperintensity in the globus pallidi and putamina, caudate, substantia nigra, and cerebellar nuclei, these are reflective of cystic changes
- T1: hypointense ring surrounding aforementioned cystic changes
- GRE/SWI: markedly hypointense ring surrounding aforementioned cystic changes
Treatment and prognosis
No disease-specific treatment is available and symptomatic management is recommended .