Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.

ABSTRACT:

Background

Dystonia and Parkinson's disease (PD) show clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.

Objective

To assess the frequency of dystonia-linked pathogenic variants in PD.

Methods

We screened sequencing data from 15,738 individuals (7,851 PD, 4,287 atypical parkinsonism, and 3,600 unaffected) from GP2 and AMP-PD for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.

Results

Pathogenic variants were only identified in PD patients. Forty-five PD individuals (0.57%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most frequently in GCH1, followed by VPS16.

Conclusion

Though rare, pathogenic variants in dystonia-

SUBMITTER: Lange LM 

PROVIDER: S-EPMC12265777 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature