In vivo detection of thalamic gliosis: a pathoradiologic demonstration in familial fatal insomnia

Arch Neurol. 2008 Apr;65(4):545-9. doi: 10.1001/archneur.65.4.545.


Background: Increasing evidence supports the usefulness of brain magnetic resonance imaging (MRI) for the diagnosis of human prion diseases. From the neuroradiological point of view, fatal familial insomnia is probably the most challenging to diagnose because brain lesions are mostly confined to the thalamus.

Objective: To determine whether multisequence MRI of the brain can show thalamic alterations and establish pathoradiologic correlations in a patient with familial fatal insomnia.

Design: Radioclinical prospective study. We describe a patient with fatal familial insomnia and normal MRI images. Because the MRI study was performed only 4 days before the patient's death, we were able to compare radiological data with the lesions observed at the neuropathologic level.

Patient: A 55-year-old man with familial fatal insomnia.

Main outcome measure: Magnetic resonance spectroscopy combined with the measurement of apparent diffusion coefficient of water in different brain areas.

Results: The neuroradiological study showed, in the thalamus but not in the other brain regions studied, an increase of apparent diffusion coefficient of water and a metabolic pattern indicating gliosis. These alterations closely correlated with neuropathologic data showing an almost pure gliosis that was restricted to the thalami.

Conclusion: Considering fatal familial insomnia as a model of thalamic-restricted gliosis, this case demonstrates that multisequences of magnetic resonance can detect prion-induced gliosis in vivo, as confirmed by a neuropathologic examination performed only a few days after radiological examination.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Brain / pathology
  • Codon / genetics
  • DNA Mutational Analysis
  • Dementia / diagnosis
  • Dementia / genetics
  • Dementia / pathology
  • Diffusion Magnetic Resonance Imaging*
  • Gliosis / diagnosis
  • Gliosis / genetics
  • Gliosis / pathology*
  • Homozygote
  • Humans
  • Insomnia, Fatal Familial / diagnosis*
  • Insomnia, Fatal Familial / genetics
  • Insomnia, Fatal Familial / pathology
  • Magnetic Resonance Spectroscopy*
  • Male
  • Methionine / genetics
  • Middle Aged
  • Neurologic Examination
  • Neuropsychological Tests
  • Polysomnography
  • Prion Proteins
  • Prions / genetics
  • Thalamic Diseases / diagnosis
  • Thalamic Diseases / genetics
  • Thalamic Diseases / pathology*
  • Thalamus / pathology*


  • Codon
  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Methionine