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Diffusion tensor imaging in Joubert syndrome.

A Poretti1, E Boltshauser, T Loenneker

  • 1Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.

AJNR. American Journal of Neuroradiology
|September 28, 2007
PubMed
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Joubert syndrome (JS) is characterized by absent crossing of the pyramidal tract and superior cerebellar peduncles. Diffusion tensor imaging confirms this finding across various genetic forms of JS.

Area of Science:

  • Neuroimaging
  • Neuroanatomy
  • Genetics

Background:

  • Joubert syndrome (JS) is a rare genetic disorder.
  • Previous studies suggested absence of pyramidal tract and superior cerebellar peduncular decussation in JS.

Purpose of the Study:

  • To investigate neuroimaging findings in Joubert syndrome.
  • To determine if functional-structural neuroimaging differs between genetic forms of JS.

Main Methods:

  • Utilized 3T MR imaging.
  • Performed multiplanar T2- and T1-weighted imaging.
  • Conducted diffusion tensor imaging (DTI) including tractography.

Main Results:

  • Diffusion tensor imaging (DTI) revealed absent decussation of superior cerebellar peduncles in all 6 patients.

Related Experiment Videos

  • Corticospinal tract failed to cross in the caudal medulla in all patients.
  • Findings were consistent across various genetic forms of Joubert syndrome.

    • Conclusions:

    • In Joubert syndrome (JS), the pyramidal tract and superior cerebellar peduncles do not cross.
    • This lack of crossing is independent of the specific underlying genetic mutation.