Diffusion tensor imaging in Joubert syndrome

A. Poretti, E. Boltshauser, T. Loenneker, E. M. Valente, F. Brancati, K. Il'Yasov, Thierry A G M Huisman

Research output: Contribution to journalArticle

Abstract

BACKGROUND AND PURPOSE: Neuropathologic findings and preliminary imaging studies demonstrated the absence of pyramidal tract and superior cerebellar peduncular decussation in individual patients with Joubert syndrome (JS). We hypothesized that functional-structural neuroimaging findings do not differ between the genetic forms of JS. MATERIALS AND METHODS: MR imaging was performed with a 3T MR imaging-unit. Multiplanar T2-and T1-weighted imaging was followed by diffusion tensor imaging (DTI). Isotropic diffusion-weighted images, apparent diffusion coefficient maps, and color-coded fractional anisotropy maps, including tractography, were subsequently calculated. RESULTS: In all 6 patients studied, DTI showed that the fibers of the superior cerebellar peduncles did not decussate in the mesencephalon and the corticospinal tract failed to cross in the caudal medulla. The patients represented various genetic forms of JS. CONCLUSION: In JS, the fibers of the pyramidal tract and the superior cerebellar peduncles do not cross, irrespective of the underlying mutation.

Original languageEnglish (US)
Pages (from-to)1929-1933
Number of pages5
JournalAmerican Journal of Neuroradiology
Volume28
Issue number10
DOIs
StatePublished - Nov 2007

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Diffusion Tensor Imaging
Pyramidal Tracts
Functional Neuroimaging
Anisotropy
Mesencephalon
Color
Mutation
Joubert syndrome 1

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

Cite this

Poretti, A., Boltshauser, E., Loenneker, T., Valente, E. M., Brancati, F., Il'Yasov, K., & Huisman, T. A. G. M. (2007). Diffusion tensor imaging in Joubert syndrome. American Journal of Neuroradiology, 28(10), 1929-1933. https://doi.org/10.3174/ajnr.A0703

Diffusion tensor imaging in Joubert syndrome. / Poretti, A.; Boltshauser, E.; Loenneker, T.; Valente, E. M.; Brancati, F.; Il'Yasov, K.; Huisman, Thierry A G M.

In: American Journal of Neuroradiology, Vol. 28, No. 10, 11.2007, p. 1929-1933.

Research output: Contribution to journalArticle

Poretti, A, Boltshauser, E, Loenneker, T, Valente, EM, Brancati, F, Il'Yasov, K & Huisman, TAGM 2007, 'Diffusion tensor imaging in Joubert syndrome', American Journal of Neuroradiology, vol. 28, no. 10, pp. 1929-1933. https://doi.org/10.3174/ajnr.A0703
Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il'Yasov K et al. Diffusion tensor imaging in Joubert syndrome. American Journal of Neuroradiology. 2007 Nov;28(10):1929-1933. https://doi.org/10.3174/ajnr.A0703
Poretti, A. ; Boltshauser, E. ; Loenneker, T. ; Valente, E. M. ; Brancati, F. ; Il'Yasov, K. ; Huisman, Thierry A G M. / Diffusion tensor imaging in Joubert syndrome. In: American Journal of Neuroradiology. 2007 ; Vol. 28, No. 10. pp. 1929-1933.
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