Rare-Variant Burden Analysis of Dystonia Genes in Parkinson's Disease.
Rare variants in dystonia-related genes are not major contributors to overall PD risk, and signals observed in the EOPD subset require replication in larger cohorts.
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Rare variants in dystonia-related genes are not major contributors to overall PD risk, and signals observed in the EOPD subset require replication in larger cohorts.
Background An X-linked levodopa-responsive parkinsonism-epilepsy syndrome has been associated with PGK1, and the gene lies within the previously suspected PD locus PARK12. Objective To examine the association of common and rare PGK1 variants with PD. Methods We analyzed common and rare variants from Accelerated Medicin...
SLC25A46 variants showed no evidence of association, suggesting the gene does not play a major role in PD, RBD, or DLB risk.
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