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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