Article

Blindness and Deafness – an Extreme Phenotype in Friedreich Ataxia

2021-06-08

Abstract excerpt

<title>Abstract</title> IntroductionFriedreich 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 ReportWe describe a patient, homozygous for a 873 GAA expansion in the <italic>FXN</italic> gene, whose first symptoms appeared by the age of 8. With 22 years...

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Literature Corpus work: 1e19a0fe-6521-54ef-9f81-c07ac46385bb
DOI: 10.21203/rs.3.rs-573040/v1

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