Copy Number Variant Duplications Associated with Essential Tremor
Miranda Medeiros1,2, Calwing Liao1,2,3,4,5, Allison A Dilliott2
1Department of Human Genetics, McGill University, Montréal, QC, Canada.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|February 16, 2026
Summary
Rare copy number duplications are linked to essential tremor (ET) genetic risk. Further research is needed to identify specific genes contributing to this complex neurological disorder.
Area of Science:
- Genetics
- Neurology
- Genomic Medicine
Background:
- Essential tremor (ET) is a neurological disorder with a significant genetic component.
- A gap exists between ET's heritability and identified genetic factors, hindering treatment and diagnosis.
- This study investigates copy number variants (CNVs) to explain the missing heritability in ET.
Purpose of the Study:
- To identify rare copy number variants (CNVs) associated with essential tremor.
- To investigate the role of CNVs in the genetic architecture of ET.
- To address the missing heritability in essential tremor.
Main Methods:
- Analyzed single nucleotide polymorphism (SNP) microarray data from 1,853 ET patients and 10,336 controls.
- Called rare CNVs (<1% frequency) intersecting protein-coding regions using PennCNV and QuantiSNP.
- Performed global burden, gene set enrichment, and gene burden tests to assess CNV association with ET.
Main Results:
- Global duplication burden (number, length, affected genes) was significantly higher in ET patients.
- Duplications in Mendeliome genes, brain-expressed genes, and cerebellum-expressed genes were enriched in ET patients.
- No significant associations were found for deletion events.
Conclusions:
- Rare copy number duplications in protein-coding regions likely contribute to ET genetic risk.
- Specific causative genes for ET remain elusive, necessitating larger, diverse genetic studies.
- The genetic basis of essential tremor requires further elucidation through comprehensive variant analysis.
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