Diffusion Tensor Imaging in Joubert Syndrome

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 fo...

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Bibliographic Details
Published in:American journal of neuroradiology : AJNR 2007-11, Vol.28 (10), p.1929-1933
Main Authors: Poretti, A, Boltshauser, E, Loenneker, T, Valente, E.M, Brancati, F, Il'Yasov, K, Huisman, T.A.G.M
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adolescent
Adult
Biological and medical sciences
Brain - abnormalities
Cerebellum - pathology
Child
Chromosome aberrations
Diffusion Magnetic Resonance Imaging
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Investigative techniques, diagnostic techniques (general aspects)
Medical genetics
Medical sciences
Nervous system
Nervous system (semeiology, syndromes)
Neurology
Pediatrics
Pyramidal Tracts - pathology
Radiodiagnosis. Nmr imagery. Nmr spectrometry
Syndrome
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Summary: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. 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. 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. In JS, the fibers of the pyramidal tract and the superior cerebellar peduncles do not cross, irrespective of the underlying mutation.
ISSN:0195-6108
1936-959X
DOI:10.3174/ajnr.A0703