Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant

Abstract

Since ANO3 mutations were first reported as a hereditary cause of craniocervical dystonia [ [1] Charlesworth G. Plagnol V. Holmström K.M. Bras J. Sheerin U.-M. Preza E. Rubio-Agusti I. Ryten M. Schneider S.A. Stamelou M. Trabzuni D. Abramov A.Y. Bhatia K.P. Wood N.W. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am. J. Hum. Genet. 2012; 91: 1041-1050https://doi.org/10.1016/j.ajhg.2012.10.024 Abstract Full Text Full Text PDF PubMed Scopus (199) Google Scholar ], most studies have focused on pathogenic variants of ANO3 mainly in patients with focal dystonia involving neck and upper limbs [ [2] Zech M. Gross N. Jochim A. Castrop F. Kaffe M. Dresel C. Lichtner P. Peters A. Gieger C. Meitinger T. Haslinger B. Winkelmann J. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov. Disord. 2014; 29: 143-147https://doi.org/10.1002/mds.25715 Crossref PubMed Scopus (41) Google Scholar , [3] Ma L.-Y. Wang L. Yang Y.-M. Feng T. Wan X.-H. Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families. Mov. Disord. 2015; 30: 743-744https://doi.org/10.1002/mds.26190 Crossref PubMed Scopus (17) Google Scholar ]. Here, we identified a novel variant in ANO3 (p.Ser651Asn) in a patient with early-onset generalized dystonia beginning in the legs.