Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate

AJNR Am J Neuroradiol. 2012 Oct;33(9):1810-3. doi: 10.3174/ajnr.A3036. Epub 2012 Apr 12.

Abstract

Neuroferritinopathy is an autosomal dominant extrapyramidal movement disorder, caused by FTL gene mutations. Iron decreases the MR T2* decay time, therefore increasing the R2* (R2* = 1 /T2*), which correlates with brain tissue iron content. 3T structural and quantitative MR imaging assessment of R2* in 10 patients with neuroferritinopathy demonstrated a unique pattern of basal ganglia cavitation involving the substantia nigra in older patients and increasing thalamic R2* signal intensity detectable during 6 months. Increasing R2* signal intensity in the thalamus correlated with progression on a clinical rating scale measuring dystonia severity. Thalamic R2* signal intensity is a clinically useful method of objectively tracking disease progression in this form of neurodegeneration with brain iron accumulation.

MeSH terms

  • Adult
  • Female
  • Humans
  • Image Interpretation, Computer-Assisted / methods*
  • Iron / metabolism*
  • Iron Metabolism Disorders / complications
  • Iron Metabolism Disorders / metabolism*
  • Iron Metabolism Disorders / pathology
  • Iron Overload / complications
  • Iron Overload / metabolism*
  • Iron Overload / pathology
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Neuroaxonal Dystrophies / complications
  • Neuroaxonal Dystrophies / metabolism*
  • Neuroaxonal Dystrophies / pathology
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Thalamus / metabolism*
  • Thalamus / pathology

Substances

  • Iron

Supplementary concepts

  • Neuroferritinopathy