Dystonia is a neurological movement disorder characterized by involuntary and intermittent or sustained muscle contractions leading to abnormal, repetitive twisting movements and/or abnormal postures. Dystonia-PRKRA (DYT-PRKRA), previously termed dystonia 16 (DYT16), is caused by mutations in the PRKRA gene, which encodes the protein activator (PACT) of the interferon-induced protein kinase PKR. The vast majority of PRKRA mutation carriers show generalized dystonia, but some patients with segmental/multifocal dystonia or focal dystonia have been noted. Tremor was reported in some patients, and Parkinsonism was described in about half the patients.

While the precise mechanisms linking PRKRA mutations to neuronal etiology of dystonia remain incompletely understood, recent research indicates that such mutations cause dysregulation of signaling pathways involved in cellular stress response as well as in production of antiviral cytokines interferons. In their new review article titled "Molecular mechanisms in DYT-PRKRA: pathways regulated by PKR activator protein PACT", graduate student Tricia Simon and her mentor Dr. Rekha Patel summarize the recent studies that shed light on the molecular mechanisms involved in DYT-PRKRA pathogenesis. A great read!