Article
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Journal of neurology - 1 Jan 2014
Doss Sarah, Lohmann Katja, Seibler Philip, Arns Björn, Klopstock Thomas, Zühlke Christine, Freimann Karen, Winkler Susen, Lohnau Thora, Drungowski Mario, Nürnberg Peter, Wiegers Karin, Lohmann Ebba, Naz Sadaf, Kasten Meike, Bohner Georg, Ramirez Alfredo, Endres Matthias, Klein Christine
Abstract excerpt
DYTCA is a syndrome that is characterized by predominant dystonia and mild cerebellar ataxia. We examined two affected siblings with healthy, consanguineous, Turkish parents. Both patients presented with a combination of childhood-onset cerebellar ataxia, dystonia, and sensory axonal neuropathy. In the brother, dystonic features were most pronounced in the legs, while his sister developed torticollis. Routine...
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