Article
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Brain : a journal of neurology - 1 Apr 2018
Parkinson Michael H, Bartmann Ana P, Clayton Lisa M S, Nethisinghe Suran, Pfundt Rolph, Chapple J Paul, Reilly Mary M, Manji Hadi, Wood Nicholas J, Bremner Fion, Giunti Paola
Abstract excerpt
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by mutations in the SACS gene. Thickened retinal nerve fibres visible on fundoscopy have previously been described in these patients; however, thickening of the retinal nerve fibre layer as demonstrated by optical coherence tomography appears to be a more sensitive and specific feature. To test this observation,...
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