Brain diffusion-weighted imaging in Friedreich's ataxia

Giovanni Rizzo, Caterina Tonon, Maria Lucia Valentino, David Manners, Filippo Fortuna, Cinzia Gellera, Antonella Pini, Alessandro Ghezzo, Agostino Baruzzi, Claudia Testa, Emil Malucelli, Bruno Barbiroli, Valerio Carelli, Raffaele Lodi

Research output: Contribution to journalArticlepeer-review


Background: Friedreich ataxia (FRDA) is the commonest form of autosomal recessive ataxia. This study aimed to define the extent of the brain damage in FRDA patients and to identify in vivo markers of neurodegeneration, using diffusion-weighted imaging (DWI). Methods: We studied 27 FRDA patients and 21 healthy volunteers using a 1.5 T scanner. Axial DW images were obtained and mean diffusivity (MD) maps were generated. Region of interests (ROIs) included medulla, pons, inferior, middle and superior cerebellar peduncles (ICP, SCP, MCP), dentate nucleus, cerebellar white matter, thalamus, caudate, putamen, pallidus, pyramidal tracts at level of posterior limb of internal capsule (PLIC), optic radiations (OR), and corpus callosum. Histograms of MD were generated for all pixels in the whole cerebral hemispheres and infratentorial compartment. Disease severity was assessed by the International Cooperative Ataxia Rating Scale (ICARS). Results: FRDA patients had significantly higher MD values than controls in medulla (P <0.001), ICP (P <0.001), MCP (P <0.01), SCP (P <0.001), OR (P <0.001), and at the level of the infratentorial structures such as brainstem (P <0.01), cerebellar hemispheres (P <0.01), and especially in the cerebellar vermis (P <0.001). MD values were strongly correlated with disease duration and ICARS score. Discussion: Our results showed that DWI is a suitable non-invasive technique to quantify the extent of neurodegeneration in FRDA, that appears more extended than previously reported, showing a microstructural involvement of structures such as OR and MCP.

Original languageEnglish
Pages (from-to)705-712
Number of pages8
JournalMovement Disorders
Issue number4
Publication statusPublished - Mar 2011


  • Diffusion-weighted imaging
  • Friedreich's ataxia
  • MRI

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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