Screening of GNAL in 39 families with PTD identified 6 additional new mutations in this gene.
Some of these cases have responded well to alcohol.   Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2.  Another report
Using exome sequencing in two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon