Article

A family study and literature review of ELOVL4-associated spinocerebellar ataxia type 34

2022-10-27

Abstract excerpt

Autosomal dominant disease-causing variants in the ELOVL4 gene (Elongation of Very Long Chain Fatty Acids-like 4) cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Australian family with spinocerebellar ataxia. Notably, while there were dermatological manifestations (eczema), erythrokeratoderma was not...

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Literature Corpus work: 88dc93f9-af9a-555c-96ee-07fb3bafb00d
DOI: 10.21203/rs.3.rs-2198569/v1

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