title: Diffusion tensor imaging in Joubert syndrome.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  In JS, the fibers of the pyramidal tract and the superior cerebellar peduncles do not cross, irrespective of the underlying mutation.
authors: Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
authors: A
authors: A
authors: Poretti
authors: E
authors: E
authors: Boltshauser
authors: T
authors: T
authors: Loenneker
authors: E M
authors: EM
authors: Valente
authors: F
authors: F
authors: Brancati
authors: K
authors: K
authors: Il'yasov
authors: T A G M
authors: TA
authors: Huisman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D038524:Diffusion Magnetic Resonance Imaging; D006801:Humans; D011712:Pyramidal Tracts / Q000473:pathology; D013577:Syndrome