Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2

Diseases, ,

Synonyms:

Neuroferritinopathy a.k.a. Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2

Diagnosis:

Genetics:

  • Autosomal dominant
  • Genetic: gene = FTL1, ferritin light chain gene. 460InsA mutation

Clinical features:

  • Focal dystonia, chorea, Parkinsonism. Cognitive effects occur later on.

Iron studies, etc:

  • Ferritin: low in men & post menopausal women. Normal in premenopausal women
  • Fe levels: normal
  • Hb, FBC & blood film: normal

Findings on investigations:
MRI:

  • Gradient echo: loss of T2 signal in red nuclei, substatia nigra, dentate nuclei, globus pallidi, thalami, cuadate nuclei. If severe cystic degeneration of globus pallidi and putamen.
  • Conventional spin echo MRI: signal loss in red nuclei and substatia nigra
  • T1: in severe disease high signal in dentate nuclei, thalami, caudate nuclei. Cystic degeneration of globus pallidi and putamen.

Other tests:

  • Muscle biopsy:
    • COX deficient fibres
    • Respiratory chain defects
  • FBC, U&E, lactate: normal
  • CSF: protein might be elevated
  • Electroretinogram: normal
  • NCS/EMG: normal
  • EEG: normal
  • Slit lamp: normal

Related articles: