Gene Variant Linked to New Forms of Early-Onset Dystonia, Parkinsonism

siteadmin November 15, 2023

Scientists from Centogene and University College London have linked the Acyl-CoA Binding Domain Containing 6 (ACBD6) gene with new forms of early-onset dystonia and parkinsonism in a study published in the journal Brain. The researchers used data of 45 patients and observed similar phenotypes to affected individuals in zebrafish and frog knockouts. Study co-authors suggest that understanding the function of the gene could provide insights on the genetic causes and pathways leading to Parkinson’s disease.