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Abstract #3875

Dual Encoded MT and Diffusion Provides Microstructural Insight in ARSACS Disease

Ilana Leppert1, Aziz Benbachir2, Jennifer SW Campbell1, Mark C Nelson1,2, Bernard Brais2, G Bruce Pike3, Roberta La Piana2,4, and Christine L Tardif1,2
1McConnell Brain Imaging Centre, Montreal Neurological institute and Hospital, Montreal, QC, Canada, 2Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada, 3Departments of Radiology and Clinical Neuroscience, Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada, 4Department of Diagnostic Radiology, McGill University, Montreal, QC, Canada

Synopsis

Keywords: Microstructure, Genetic Diseases

Motivation: ARSACS is a genetic disease characterized by spasticity and ataxia corresponding to involvement of the corticospinal tracts (CST) and cerebellum.

Goal(s): Previous reports suggest that the abnormally enlarged transverse pontine fibers (TPF) compress the CST where they cross, causing their developmental impairment.

Approach: To test this hypothesis, advanced techniques that combine diffusion and magnetization transfer imaging were used to glean tract-specific microstructural properties.

Results: Results indicate lower fiber density and axon caliber in the CST compared to controls, but relatively unaffected TPF, suggesting that geometry and crossing fibers could have driven the DTI-based previous hypothesis.

Impact: Our results obtained through advanced MR techniques are in contrast with the previous hypothesis that the TPF ‘squeeze’ the CST in ARSACS, thus causing their abnormal development. Our observations have a direct impact on the understanding of this disease.

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