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Kägi, G; Ruge, D; Brugger, F; Katschnig, P; Sauter, R; Fiorio, M; Tinazzi, M; Rothwell, J; Bhatia, KP.
Endophenotyping in idiopathic adult onset cervical dystonia.
Clin Neurophysiol. 2017; 128(7):1142-1147
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Autor/innen der Med Uni Graz:
Katschnig-Winter Petra
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Abstract:
Idiopathic adult onset cervical dystonia (IAOCD) is considered to be a partially penetrant autosomal dominant genetic condition. Dystonia may result from genetic and environmental factors. In this view, part of the physiology should be an endophenotype stemming from the genetic background. We assessed the most discriminative test to separate patients with IAOCD and healthy controls for further endophenotyping in non-affected 1st degree relatives. We included patients with IAOCD, their 1st degree relatives and healthy controls. Tests performed: (1) Sensory temporal discrimination (visual, tactile, visuo-tactile), (2) Paired pulse paradigms using transcranial magnetic stimulation (TMS), (3) Mental rotation paradigms. 45 patients with IAOCD, 23 healthy controls and 14 non-affected 1st degree relatives were recruited. Visuo-tactile temporal discrimination separated best between controls and patients as well as between controls and 1st degree relatives. 36% of the latter had an abnormal visuo-tactile temporal discrimination. No difference between patients and healthy controls was found for the other paradigms. Visuo-tactile temporal discrimination separates controls from patients with IAOCD and its 1st degree relatives. 36% of the latter had abnormal visuo-tactile thresholds supporting the role of visuo-tactile temporal discrimination as an endophenotype for IAOCD. Even though the study was of exploratory design, our findings expand the understanding of endophenotypes in IAOCD. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.
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Adult -
Aged -
Discrimination Learning - physiology
Dystonic Disorders - diagnosis
Dystonic Disorders - physiopathology
Endophenotypes -
Female -
Humans -
Male -
Middle Aged -
Photic Stimulation - methods
Random Allocation -
Torticollis - diagnosis
Torticollis - physiopathology
Touch - physiology
Transcranial Magnetic Stimulation - methods
Visual Perception - physiology
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Find related publications in this database (Keywords)
Dystonia
Temporal discrimination
Transcranial magnetic stimulation
Mental rotation
Endophenotype
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