![]() ![]() Neuroimaging findings include slowly progressive atrophy of the superior vermis, and atrophy of the cerebellar hemispheres, cervical spinal cord, and cerebral cortex. 3 Confusion with cerebral palsy and secondary spastic diplegia, and variations in the phenotype lead to underdiagnosis of ARSACS. 2 The responsible gene ( SACS, MIM 604490) was located on chromosome 13q and encodes the sacsin protein, which is widely expressed throughout the brain with a predilection for pyramidal neurons, Purkinje cells, thalamic and pontine nuclei, and reticular formation. Since the first description of patients in the Charlevoix-Saguenay region of Quebec in 1978, the disease has been increasingly defined worldwide, with numerous mutations and diverse phenotypes. Clinical variations including later-onset mental retardation, ophthalmoplegia, skeletal deformities, and biochemical abnormalities have been reported. ISMRM 2021.ABBREVIATIONS: AD axial diffusivity ARSACS autosomal recessive spastic ataxia of Charlevoix-Saguenay CST corticospinal tracts FA fractional anisotropy RD radial diffusivity TBSS tract-based spatial statistics TPF transverse pontine fibersĪRSACS (MIM 270550) is a distinctive form of hereditary, early-onset spastic ataxia, which manifests mainly by early-onset pyramidal tract and cerebellar involvement, peripheral neuropathy, and hypermyelination of the retinal nerve fibers. Patient specific tracts-based analysis of diffusion compartment models: application to multiple sclerosis patients with acute optic neuritis. NODDI: Practical in vivo neurite orientation dispersion and density imaging of the human brain, NeuroImage, 61:4, 1000-1016, 2012. Hui Zhang, Torben Schneider, Claudia A.Interpolation and Averaging of Multi-Compartment Model Images, 18th International Conference on Medical Image Computing and Computer Assisted Intervention (MICCAI), 354-362, 2015. Renaud Hédouin, Olivier Commowick, Aymeric Stamm, Christian Barillot.IEEE International Symposium on Biomedical Imaging, 2014. Fast Identification of Optimal Fascicle Configurations from Standard Clinical Diffusion MRI Using Akaike Information Criterion. Aymeric Stamm, Olivier Commowick, Patrick Pérez, Christian Barillot.IEEE International Symposium on Biomedical Imaging, 2012. A new multi-fiber model for low angular resolution diffusion MRI. Aymeric Stamm, Patrick Pérez, Christian Barillot.19th International Conference on Medical Image Computing and Computer Assisted Intervention (MICCAI), 2016. Comprehensive Maximum Likelihood Estimation of Diffusion Compartment Models Towards Reliable Mapping of Brain Microstructure. Aymeric Stamm, Olivier Commowick, Simon K.Information Processing in Medical Imaging, pp 594-606, 2013. Adaptive Multi-modal Particle Filtering for Probabilistic White Matter Tractography. Aymeric Stamm, Olivier Commowick, Christian Barillot, Patrick Perez.Three-dimensional tracking of axonal projections in the brain by magnetic resonance imaging. MICCAI 2011 Workshop on Computational Diffusion MRI (CDMRI’11), pp 150-157, Sep 2011. Comparison of 3 Diffusion Models to Track the Hand Motor Fibers within the Corticospinal Tract Using Functional, Anatomical and Diffusion MRI. Nicolas Wiest-Daesslé, Olivier Commowick, Aymeric Stamm, Patrick Perez, Christian Barillot, Romuald Seizeur, Sylvain Prima.Reconstruction of the orientation distribution function in single-and multiple-shell q-ball imaging within constant solid angle. Iman Aganj, Christophe Lenglet, Guillermo Sapiro, Essa Yacoub, Kamil Ugurbil, Noam Harel.Deterministic and probabilistic tractography based on complex fibre orientation distributions. Descoteaux M, Deriche R, Knösche TR, Anwander A.Regularized, Fast, and Robust Analytical Q-Ball Imaging. Descoteaux, M., Angelino, E., Fitzgibbons, S., Deriche, R.Log-Euclidean Metrics for Fast and Simple Calculus on Diffusion Tensors. Vincent Arsigny, Pierre Fillard, Xavier Pennec, and Nicholas Ayache.Analytic Legendre polynomials formulaes. ![]()
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