Neuroferritinopathy

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.

Epidemiology

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 .

Clinical presentation

Patients present with movement disorders .

Pathology

Patients have pathological iron deposition in areas of the brain including the basal ganglia, substantia nigra and dentate nuclei .

It is the only autosomal dominant member of the NBIA group, and only one of two involving mutation of a gene directly involved in iron metabolism, the other being aceruloplasminaemia .

Radiographic features

In general, cystic radiographic changes are appreciated in the basal ganglia and surrounding structures in the brain . Generalized cerebral atrophy may also be noted on any imaging modality .

CT

CT may reveal regions of hypodensity in the basal ganglia, indicative of cystic degeneration .

MRI

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 .