A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation.

In 2013, Fuchs identified GNAL as a novel causative dystonia gene in 28 patients from 8 families [ [1] Fuchs T. Saunders-Pullman R. Masuho I. Luciano M.S. Raymond D. Factor S. Lang A.E. Liang T.W. Trosch R.M. White S. Ainehsazan E. Hervé D. Sharma N. Ehrlich M.E. Martemyanov K.A. Bressman S.B. Ozelius L.J. Mutations in GNAL cause primary torsion dystonia. Nat. Genet. 2013; 45: 88-92https://doi.org/10.1038/ng.2496 Crossref PubMed Scopus (245) Google Scholar ]. The correlation between genotype, phenotype, and response to treatments of GNAL-related dystonia (DYT-GNAL) is still undetermined due to the limited number of individuals currently described (see Fig. 1).