Article

Onset features and time to diagnosis in Friedreich´s Ataxia

2020-06-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich´s Ataxia (FRDA), a genetic disorder usually caused by homozygous GAA-repeat expansions. <bold>Methods: </bold>611 genetically confirmed FRDA patients were recruited within a multicentric natural hi...

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Literature Corpus work: 7161195c-73ab-51ac-8d4b-44e2ca85ec27
DOI: 10.21203/rs.3.rs-18562/v2

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