title: A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
abstract: We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation at the age of 18years, topiramate treatment was initiated and the frequency of chorea decreased dramatically. The efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated Ca2+channels. Given the side effects and complications associated with neuroleptics and deep brain stimulation, respectively, topiramate is recommended for the first-line management of severe chorea associated with a GNAO1 mutation.
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Saori
authors.initials: S
authors.lastname: Sakamoto
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan; Department of Pediatrics, International University of Health and Welfare, 537-3 Iguchi, Shiobara, Tochigi 329-2763, Japan. Electronic address: mon4441977319@jichi.ac.jp.
authors.forename: Yukifumi
authors.initials: Y
authors.lastname: Monden
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Fukai
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Saito
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Miyauchi
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Nagashima
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
mesh_terms: D016206:Databases, Bibliographic / Q000706:statistics & numerical data; D005260:Female; D005632:Fructose / Q000031:analogs & derivatives* / Q000627:therapeutic use; D019206:GTP-Binding Protein alpha Subunits, Gi-Go / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D018696:Neuroprotective Agents / Q000627:therapeutic use; D010597:Pharmacogenetics; D000077236:Topiramate; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C584143:GNAO1 protein, human; D018696:Neuroprotective Agents; D000077236:Topiramate; D005632:Fructose; D019206:GTP-Binding Protein alpha Subunits, Gi-Go
keywords: Chorea; GNAO1; Pediatrics