UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Physiological studies in carriers of the DYT1 gene mutation

Rothwell, JC; Edwards, M; Huang, YZ; Bhatia, KP; (2003) Physiological studies in carriers of the DYT1 gene mutation. REV NEUROL-FRANCE , 159 (10) 880 - 884.

Full text not available from this repository.

Abstract

The DYT1 gene mutation is associated with early onset generalised dystonia. However, only 30-40 per cent of gene carriers develop symptoms. We have used electrophysiological tests to search for subclinical effects of the presence of the mutation in non-manifesting cases and compared these with those seen in clinically affected cases and healthy controls. Clinically affected patients had the same pattern of abnormalities in spinal and motor cortical circuits as described previously in non-genetically characterised patients. Non-manifesting cases had some but not all of these defects, suggesting that additional genetic or environmental factors may be needed to produce the full range of physiological deficiencies needed to give rise to clinical symptoms.

Type: Article
Title: Physiological studies in carriers of the DYT1 gene mutation
Keywords: HUMAN MOTOR CORTEX, RECIPROCAL INHIBITION, TORSION DYSTONIA, CORTICOCORTICAL INHIBITION, VOLUNTARY CONTRACTION, HUMAN FOREARM, HUMANS, EXCITABILITY, STIMULATION, VARIABILITY
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/61299
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item