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Eur J Neurol. 2010 Jul;17 Suppl 1:81-7. doi: 10.1111/j.1468-1331.2010.03057.x.

The role of torsinA in dystonia.

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1
Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, UK. a.granata@medsch.ucl.ac.uk

Abstract

DYT1 dystonia is an autosomal-dominant movement disorder, characterised by early onset of involuntary sustained muscle contractions. It is caused by a 3-bp deletion in the DYT1 gene, which results in the deletion of a single glutamate residue in the C-terminus of the protein torsinA. TorsinA is a member of the AAA-ATPase family of; chaperones with multiple functions in the cell. There is no evidence of neurodegeneration in DYT1 dystonia, which suggests that mutant torsinA leads to functional neuronal abnormalities leading to dystonic movements. In the recent years, different functional roles have been attributed to torsinA, including being a component of the cytoskeleton and the nuclear envelope, and involvement in the secretory pathway and synaptic vesicle machinery. The aim of this review is to summarise these findings and the different models proposed, which have contributed to our current understanding of the function of torsinA.

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