Publication at First Faculty of Medicine |
2024
Abstract
The genetic background of dystonia is extremely heterogeneous. The introduction of whole exome sequencing (WES) unveiled substantial overlaps with the genetic landscape of several other neurological disorders.
Recent large-scale WES studies highlighted that especially variants in neurodevelopmental disorders (NDDs) related genes may present with dystonia. Enrichment of chromatin regulators, transcription factors, and translation initiators in the genetic landscape of NDDs-associated dystonias points to a disrupted gene expression control as shared pathogenic motif.