Jun Ho Heo

Expanding the Clinical Spectrum of ARSACS: An Atypical Adolescent-Onset Presentation with Compound Heterozygous SACS Variants

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary neurodegenerative disorder caused by biallelic pathogenic variants in SACS.Initially described in the French-Canadian population, ARSACS is now recognized worldwide and ranks among the most co...