Article

Interpretation of Variants of Uncertain Significance in the Clinical Setting: A Case of Treatable Ataxia

2020-08-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Spinocerebellar ataxia type 38 (SCA38) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the elongation of very long chain fatty acids-like 5 gene (ELOVL5). Improvement of ataxia with a docosahexaenoic acid (DHA) replacement therapy has been reported.<bold>Case presentation:</bold> A 73-year-old man of Hispanic descent presented with ga...

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Literature Corpus work: 3f593b7f-0918-59bd-a2a1-1fb328776b0a
DOI: 10.21203/rs.3.rs-55670/v1

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