Article

DHTKD1 exon deletion associated with sporadic cerebellar ataxia

2026-08-14

Abstract excerpt

<title>Abstract</title> <p>Hereditary ataxia (HA) is a genetically heterogeneous category of progressive neurodegenerative diseases, typically manifesting with unsteady gait, incoordination of movement and speech. Recently, the discovery of numerous pathogenic genes, especially the most common repeat expansion mutations, has greatly enhanced our understanding of the genetic etiology of HA. However, our understand...

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Literature Corpus work: 9b33edd5-3ca1-5b03-8fbc-4b99cd568a5b
DOI: 10.21203/rs.3.rs-8807051/v1

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