Boltshauser
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Neuropädiatrie, Abteilung » Prof. Dr. Eugen Boltshauser (emeritiert) » Boltshauser
Completed research project
| Title / Titel | MR tractography in Joubert Syndrome | ||||
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| Abstract (PDF, 14 KB) | |||||
| Summary / Zusammenfassung | Joubert syndrome (JS) is a rare midbrain-hindbrain malformation, inheritance is autosomal recessive. Preliminary studies in single patients (postmortem, fMRI, tractography) have shown that major fibre tracts (pyramidal, superior cerebellar peduncles) do not cross in JS. It is remarkable that the gene product of JS type 3 (chormosome 6, AHI1 gene) is mostly expressed in the nerurons which have non-crossing axons ! It seems however that other JS types with intact AHI1 gene have the same tract "pathology". We are currently studying a cohort of JS patients with various JS types/mutations with MR tractography. In view of the rarity of this syndrome and the required cooperation (most patients have marked cognitive impairment) recruitment of patients is a challenge. |
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| Publications / Publikationen | Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il'yasov K, Huisman TA: Diffusion tensor imaging in Joubert syndrome. AJNR Am J Neuroradiol 2007;28:1929-39 | ||||
| Keywords / Suchbegriffe | Joubert syndrome - Molar tooth sign - diffusion tensor imaging - tractography | ||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
No project-specific funding |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Jan 2007 to Dec 2008 |