title: Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
abstract: Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here, improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time.
authors.affiliation: Department of Neurology, Universitätsklinikum Mannheim, University of Heidelberg, Mannheim, Germany. shkreisel@neuro.ma.uni-heidelberg.de
authors.forename: Stefan H
authors.initials: SH
authors.lastname: Kreisel
authors.forename: Johannes
authors.initials: J
authors.lastname: Binder
authors.forename: Johannes C
authors.initials: JC
authors.lastname: Wöhrle
authors.forename: Joachim K
authors.initials: JK
authors.lastname: Krauss
authors.forename: Sabine
authors.initials: S
authors.lastname: Hofmann
authors.forename: Matthias F
authors.initials: MF
authors.lastname: Bauer
authors.forename: Michael G
authors.initials: MG
authors.lastname: Hennerici
authors.forename: Hansjörg
authors.initials: H
authors.lastname: Bäzner
mesh_terms: D000328:Adult; D002998:Clonazepam / Q000627:therapeutic use*; D003072:Cognition Disorders / Q000150:complications; D020821:Dystonic Disorders / Q000188:drug therapy* / Q000235:genetics*; D018757:GABA Modulators / Q000627:therapeutic use*; D040181:Genetic Diseases, X-Linked / Q000188:drug therapy / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D001523:Mental Disorders / Q000150:complications; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D020125:Mutation, Missense / Q000235:genetics; D009207:Myoclonus / Q000150:complications; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome
chemical_list: D018757:GABA Modulators; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C118122:TIMM8A protein, human; D002998:Clonazepam