Article

Identification of GGC Repeat Expansions in<i>ZFHX3</i>Among Chilean Movement Disorder Patients

2025-03-19

Abstract excerpt

<h4>Background</h4> Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. A pathogenic ZFHX3 GGC repeat expansion was recently linked to spinocerebellar ataxia type 4 (SCA4), characterized by progressive ataxia and sensory neuropathy, with all reported cases in individuals of Northern European ancestry. <h4>Methods</h4> We performed Oxford Nanopor...

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Literature Corpus work: 5d5b9fde-1006-52f8-80da-32fc9cc97b86
DOI: 10.1101/2025.03.17.25323863

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