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 1. A 2016 review noted 90 cases in the literature 2.
Patients present with movement disorders 2.
CT may reveal regions of hypodensity in the basal ganglia, indicative of cystic degeneration 3.
MRI is the modality of choice for evaluating patients with neuroferritinopathy 3. Signal changes in the brain include 3:
- T2/FLAIR: hyperintensity in the globus pallidi and putamina, caudate, substantia nigra, and cerebellar nuclei, these are reflective of cystic changes 3
- T1: hypointense ring surrounding aforementioned cystic changes 3
- GRE/SWI: markedly hypointense ring surrounding aforementioned cystic changes 3
Treatment and prognosis
No disease-specific treatment is available and symptomatic management is recommended 2.
- 1. Curtis ARJ, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics. 28 (4): 350. doi:doi:10.1038/ng571
- 2. Kumar N, Rizek P, Jog M. Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management. Tremor and other hyperkinetic movements (New York, N.Y.). 6: 355. doi:10.7916/D8KK9BHF - Pubmed
- 3. Fatima Z, Ishigame K, Araki T. Case 193: Neuroferritinopathy--a brain iron accumulation and neurodegenerative disorder. Radiology. 267 (2): 650-5. doi:10.1148/radiol.13111136 - Pubmed