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Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia.

Sadnicka, A; Galea, JM; Chen, J-C; Warner, TT; Bhatia, KP; Rothwell, JC; Edwards, MJ (2018) Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. Mov Disord, 33 (12). pp. 1956-1961. ISSN 1531-8257 https://doi.org/10.1002/mds.27517
SGUL Authors: Edwards, Mark John James Sadnicka, Anna

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Abstract

BACKGROUND: Recent research has highlighted the role of the cerebellum in the pathophysiology of myoclonus-dystonia syndrome as a result of mutations in the ɛ-sarcoglycan gene (DYT11). Specifically, a cerebellar-dependent saccadic adaptation task is dramatically impaired in this patient group. OBJECTIVES: The objective of this study was to investigate whether saccadic deficits coexist with impairments of limb adaptation to provide a potential mechanism linking cerebellar dysfunction to the movement disorder within symptomatic body regions. METHODS: Limb adaptation to visuomotor (visual feedback rotated by 30°) and forcefield (force applied by robot to deviate arm) perturbations were examined in 5 patients with DYT11 and 10 aged-matched controls. RESULTS: Patients with DYT11 successfully adapted to both types of perturbation. Modelled and averaged summary metrics that captured adaptation behaviors were equivalent to the control group across conditions. CONCLUSIONS: DYT11 is not characterized by a uniform deficit in adaptation. The previously observed large deficit in saccadic adaption is not reflected in an equivalent deficit in limb adaptation in symptomatic body regions. We suggest potential mechanisms at the root of this discordance and identify key research questions that need future study.

Item Type: Article
Additional Information: This is the peer reviewed version of the following article: Sadnicka, A. , Galea, J. M., Chen, J. , Warner, T. T., Bhatia, K. P., Rothwell, J. C. and Edwards, M. J. (2018), Delineating cerebellar mechanisms in DYT11 myoclonus‐dystonia. Mov Disord., 33: 1956-1961, which has been published in final form at https://doi.org/10.1002/mds.27517. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
Keywords: DYT11, Dystonia, adaptation, cerebellum, ɛ-sarcoglycan, 1103 Clinical Sciences, 1106 Human Movement And Sports Science, 1702 Cognitive Science, Neurology & Neurosurgery
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Mov Disord
ISSN: 1531-8257
Language: eng
Dates:
DateEvent
22 December 2018Published
17 October 2018Published Online
26 June 2018Accepted
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
UNSPECIFIEDGuarantors of BrainUNSPECIFIED
UNSPECIFIEDChadburn Clinical Research FellowshipUNSPECIFIED
UNSPECIFIEDRoyal SocietyUNSPECIFIED
637488European Research Councilhttp://dx.doi.org/10.13039/501100000781
WT089698Wellcome Trusthttp://dx.doi.org/10.13039/100004440
PubMed ID: 30334277
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/110293
Publisher's version: https://doi.org/10.1002/mds.27517

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