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Intronic VNTRs downregulate expression of HSF1 and confer genetic risk of essential tremor

21 Jun 2025

Abstract excerpt

Essential tremor (ET) is a highly prevalent movement disorder characterized by high heritability. However, the genetic basis of this disease remains largely unknown. Understanding the genetic causes of ET is crucial for unravelling its pathogenesis and developing targeted therapies. In this study, we aimed to investigate tandem repeats in a Chinese cohort of ET pedigrees. To explore the genetic causes of ET, we...

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PMID: 40581632
DOI: 10.1093/brain/awaf241

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