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Abstract #1917

Quantitative white matter fibers in a mouse model of a neurodevelopmental disease: Insights from high spatial resolution 3D-DTI

Maxime Leclercq1, Jean Christophe Deloulme2, Michèle Bertacchi3, Michèle Studer3, and Hana Lahrech1
1BrainTech Lab Inserm U1205, Grenoble, France, 2GIN Inserm U836, Grenoble, France, 3iBV Inserm U1091, Nice, France

Microscopic 3D-DTI was applied to detect brain connection defects in COUP-TFI-mutant mice. Several tractography abnormalities were identified supporting a major role of COUP-TFI gene acting in the formation and guidance of forebrain commissures. DTI results are in agreement with those using fluorescent dyes, but identifies deficiencies of other cortical tracts not previously described. As COUP-TFI (NR2F1 in humans) mutations were also linked to a complex neurodevelopmental disease in humans, this work underlines the interest of 3D-DTI to study the whole brain in patients as those affected with Bosch-Boonstra-Schaaf optic-atrophy syndrome due to NR2F1 gene mutations/deletions, an emerging rare neurodevelopmental disease.

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