Centogene N.V. announced the discovery of a new form of early-onset dystonia and parkinsonism in the context of neurodevelopmental abnormalities associated to the gene called ACBD6 (Acyl-CoA Binding Domain Containing 6) as part of an international team of researchers. The study's findings have been published in Brain, a leading, peer-reviewed scientific journal of neurology. The study reports on 45 patients from 29 families and provides evidence that bi-allelic pathogenic variants in the ACBD6 gene lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders.

The clinical features were similar across all patients, and the study identified a recognizable clinical pattern that will help clinicians diagnose this disease.