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.

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

Patients have pathological iron deposition in areas of the brain including the basal ganglia, substantia nigra and dentate nuclei 2.

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 2

In general, cystic radiographic changes are appreciated in the basal ganglia and surrounding structures in the brain 3. Generalised cerebral atrophy may also be noted on any imaging modality 3.

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

No disease-specific treatment is available and symptomatic management is recommended 2.

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Article information

rID: 54957
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Neurodegeneration with Brain Iron Accumulation (NBIA) Type 2
  • Hereditary Ferritinopathy
  • NBIA type 2

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