Abstract
Introduction: Elevated temporal discrimination thresholds (TDT) have been found in cervical dystonia (CD) and unaffected first-degree relatives, indicating autosomal dominant inheritance with reduced penetrance, serving as an endophenotype and being indicative of abnormal inhibitory processing within the brainstem-basal ganglia circuits. The blink reflex R2 recovery cycle (BRRC) is also a measure of excitability of brainstem-basal ganglia circuits, and inconsistent findings are reported in CD. The aim was to investigate TDT and BRRC in CD and evaluate its reliability as an endophenotype. Methods: 29 patients with isolated cervical dystonia (mean age: 56.1 ± 14.3, female n = 18) and 29 age- and gender-matched healthy controls (mean age: 56.0 ± 14.2, female n = 18) were evaluated using a TDT-paradigm, performed as previously described by testing visual, tactile and visual-tactile temporal discrimination thresholds, and the BRRC, investigated with electrical and air puff stimulation. Results: Mean visual-tactile (p = 0.001) and visual TDTs (p = 0.015) differed between CD and controls; tactile TDTs revealed no group differences (p = 0.232). No between group differences were found for BRRC using either electrical or air puff stimulation (p = 0.117). There was no correlation between the elevation of TDTs and the degree of BRRC-inhibition in CD. Conclusion: Our findings support the hypothesis that the TDT is an endophenotype in CD. BRRC testing did not demonstrate disinhibition of brainstem-basal ganglia circuits in CD. In contrast to TDT, the BRRC seems not to represent an endophenotype in cervical dystonia.
| Original language | English |
|---|---|
| Journal | Parkinsonism and Related Disorders |
| Volume | 68 |
| Pages (from-to) | 4-7 |
| Number of pages | 4 |
| ISSN | 1353-8020 |
| DOIs | |
| Publication status | Published - 11.2019 |
Funding
Johanna Junker - received a travel grant of the Movement Disorder Society. Theresa Paulus – reports no disclosures. Valerie Brandt – received funding from the Strategic Interdisciplinary Research Fund ( SIRDF; 07/17-06/18 ), the Public engagement with Research unit (PERu) and the ROLI music company . Anne Weissbach - has received a scholarship of the Deutsche Forschungsgesellschaft ( DFG; WE5919/1-1 ) and a Habilitation stipend of the University of Lübeck ( H03-2016 ). She receives funding from the Else Kroner-Fresenius Foundation ( 2018_A55 ) and the Deutsche Forschungsgemeinschaft ( DFG; WE5919/2-1 ). She is supported by an Edmond J. Safra fellowship in Movement Disorders from the Michael J Fox foundation . Sinem Tunc - is supported by the German Research Foundation ( SFB 936/project C5 ). She received travel grants from the Movement Disorders Society and Merz . Sebastian Loens - is supported by the German federal research ministry (BMBF) through the Dystonia Translational Research and Therapy Consortium (DysTract) and received a travel grant from abbvie . Richard Reilly - received research grants from the Health Research Board of Ireland ( CSA- 2012-5 ) and the Trinity Centre for Biomedical Engineering and is support by the Dystonia Medical Research Foundation . Michael Hutchinson - received research grants from Dystonia Ireland , the Health Research Board of Ireland ( CSA-2012-5 ), Foundation for Dystonia Research (Belgium) and the Irish Institute of Clinical Neuroscience . Tobias Baeumer - was supported by a grant of the Possehl Foundation . His work was also supported by the Deutsche Forschungsgemeinschaft ( DFG; SFB 936/project C5 ) and by the German Bundesministerium für Bildung und Forschung (BMBF) through a project grant (Dystonia Translational Research and Therapy Consortium (DysTract) . He received Honiara from Merz Pharmaceuticals, Allergan and Ipsen Pharma.
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
