ArticleSultan Qaboos University medical journal2025
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features:
Article in Sultan Qaboos University medical journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We report a novel presentation of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in a 9-year-old Moroccan male patient born to consanguineous parents, expanding the known clinical spectrum of the disease. The patient presented to a tertiary care hospital in Rabat, Morocco, in 2023. This case presents an unusual phenotype with early-onset epilepsy beginning at age 5, significantly broadening the known phenotypic spectrum of ARSACS. While initial neuroimaging was unremarkable, the patient exhibited classical retinal involvement with bilateral nerve fibre layer thickening. Genetic analysis revealed a previously unreported homozygous frameshift mutation in the
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