Publication at Faculty of Physical Education and Sport, First Faculty of Medicine, Second Faculty of Medicine |
2024
Abstract
The phenotype of spastic ataxia has been described in multiple genetic disorders including autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), Friedreich ataxia, ataxia with isolated vitamin E deficiency (AVED), and spastic paraplegia 7 (SPG7). Neuroimaging could serve as an important tool in the differential diagnoses of such a diverse group of disorders since several typical MRI findings could be associated with specific diagnoses.