Neurology 2021 04 17;96(14):e1887-e1897. Epub 2020 Sep 17.
From the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Objective: To report 4 novel mutations leading to laryngeal and cervical dystonia with frequent generalization.
Methods: We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description.
Results: Four novel variants in the gene have been identified: D295N, R46M, Q424H, and R121W. Read More