Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

Abstract Background Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. Case report We describe a patient, homozygous for a 873 GAA expan...

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Bibliographic Details
Main Authors: Joana Damásio, Ana Sardoeira, Maria Araújo, Isabel Carvalho, Jorge Sequeiros, José Barros
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Cerebellum & Ataxias
Subjects:
Online Access:https://doi.org/10.1186/s40673-021-00140-6