Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

K P DivyaAjith CherianHemanga Kumar DhingSavith KumarBejoy ThomasMohammed Faruq

Published in: Acta neurologica Belgica (2023)

This is the largest series of genetically confirmed ARSACS patients from India highlighting the clinical, ophthalmological, imaging and genetic features of this cohort.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
high resolution
genome wide
mass spectrometry