Endophenotyping in idiopathic adult onset cervical dystonia.
- Kägi G Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom; Department of Neurology, Kantonsspital St.Gallen, St.Gallen, Switzerland. Electronic address: georg.kaegi@kssg.ch.
- Ruge D Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom; Department of Psychology and Neurosciences, Leibniz Research Centre for Working Environment and Human Factors, Technical University (TU) Dortmund, D-44139 Dortmund, Germany. Electronic address: ruge@ifado.de.
- Brugger F Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom; Department of Neurology, Kantonsspital St.Gallen, St.Gallen, Switzerland. Electronic address: florian.brugger@kssg.ch.
- Katschnig P Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom; Department of Neurology, Division of Special Neurology, Medical University Graz, Graz, Austria. Electronic address: petra.katschnig@medunigraz.at.
- Sauter R Clinical Trials Unit, Kantonsspital St. Gallen, St. Gallen, Switzerland. Electronic address: Rafael.Sauter@kssg.ch.
- Fiorio M Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address: mirta.fiorio@univr.it.
- Tinazzi M Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Neurology Unit, Borgo Trento Hospital, Verona, Italy. Electronic address: michele.tinazzi@ospedaleuniverona.it.
- Rothwell J Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom. Electronic address: j.rothwell@ucl.ac.uk.
- Bhatia KP Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom. Electronic address: k.bhatia@ucl.ac.uk.
- 2017-05-17
Published in:
- Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. - 2017
Dystonia
Endophenotype
Mental rotation
Temporal discrimination
Transcranial magnetic stimulation
Adult
Aged
Discrimination Learning
Dystonic Disorders
Endophenotypes
Female
Humans
Male
Middle Aged
Photic Stimulation
Random Allocation
Torticollis
Touch
Transcranial Magnetic Stimulation
Visual Perception
Young Adult
English
OBJECTIVE
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.
METHODS
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.
RESULTS
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.
CONCLUSIONS
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.
SIGNIFICANCE
Even though the study was of exploratory design, our findings expand the understanding of endophenotypes in IAOCD.
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.
METHODS
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.
RESULTS
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.
CONCLUSIONS
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.
SIGNIFICANCE
Even though the study was of exploratory design, our findings expand the understanding of endophenotypes in IAOCD.
- Language
-
- English
- Open access status
- green
- Identifiers
-
- DOI 10.1016/j.clinph.2017.04.007
- PMID 28511126
- Persistent URL
- https://folia.unifr.ch/global/documents/13317
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