Dystonia in the Mohr–Tranebjaerg syndrome responds to GABAergic substances
- 26 May 2004
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 19 (10) , 1241-1243
- https://doi.org/10.1002/mds.20150
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. © 2004 Movement Disorder SocietyKeywords
This publication has 10 references indexed in Scilit:
- Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) geneBrain, 2003
- Peripheral benzodiazepine receptors and mitochondrial functionNeurochemistry International, 2002
- Pathophysiology of dystonia: A neuronal modelMovement Disorders, 2002
- Impaired brain GABA in focal dystoniaAnnals of Neurology, 2001
- Role of the Deafness Dystonia Peptide 1 (DDP1) in Import of Human Tim23 into the Inner Membrane of MitochondriaJournal of Biological Chemistry, 2001
- γ-Hydroxybutyric acid for alcohol-sensitive myoclonus with dystoniaNeurology, 2000
- Human deafness dystonia syndrome is a mitochondrial diseaseProceedings of the National Academy of Sciences, 1999
- X‐linked dystonia‐deafness syndromeMovement Disorders, 1998
- A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindnessNature Genetics, 1996
- Myoclonic dystoniaNeurology, 1983