TY - JOUR
T1 - Diffusion tensor imaging in Joubert syndrome
AU - Poretti, A.
AU - Boltshauser, E.
AU - Loenneker, T.
AU - Valente, E. M.
AU - Brancati, F.
AU - Il'Yasov, K.
AU - Huisman, Thierry A.G.M.
PY - 2007/11
Y1 - 2007/11
N2 - 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.
AB - 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.
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U2 - 10.3174/ajnr.A0703
DO - 10.3174/ajnr.A0703
M3 - Article
C2 - 17898198
AN - SCOPUS:36448931602
SN - 0195-6108
VL - 28
SP - 1929
EP - 1933
JO - American Journal of Neuroradiology
JF - American Journal of Neuroradiology
IS - 10
ER -