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Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature

Edwards, M; Wood, N; Bhatia, K; (2003) Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature. MOVEMENT DISORD , 18 (6) 706 - 711. 10.1002/mds.10411.

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Abstract

Since the advent of widespread testing for the presence of the DYT1 gene mutation, the range of phenotypes that have been associated with this genetic abnormality has expanded. We report on 5 DYT1 gene-positive patients with unusual phenotypes. Two of them had late presentation, one of these after peripheral injury. Three additional patients had late progression of symptoms, onset after exposure to haloperidol, and severe bulbar involvement, respectively. The clinical heterogeneity of this condition raises problems for clinicians in selecting appropriate patients for diagnostic testing. Also, because of the low phenotypic penetrance of DYT1 dystonia, the discovery of the DYT1 mutation in a patient with an atypical clinical syndrome may not necessarily suggest a causal relationship. We have, therefore, analysed all published clinical studies of DYT1 dystonia to guide clinical decision making concerning DYT1 gene testing based on current information. (C) 2003 Movement Disorder Society.

Type: Article
Title: Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
DOI: 10.1002/mds.10411
Keywords: DYT1 dystonia, phenotype, phenotypic variability, PRIMARY TORSION DYSTONIA, POSTTRAUMATIC CERVICAL DYSTONIA, GAG DELETION, MUTATION, ONSET, VARIABILITY, GENE, FREQUENCY, FAMILY
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/140035
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