A novel mutation profile of Brazilian autosomal recessive spastic ataxia of Charlevoix-Saguenay

Takeaway

  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in a Brazilian population has ophthalmologic and neurologic phenotypes consistent with the traditional French-Canadian population, with two new genetic variants.

Why this matters

    Confirmation of peripapillary retinal fiber layer (pRNFL) thickening and neuroimaging abnormalities in Brazilian ARSACS may assist in differential diagnosis among neurogenetic disorders.