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Delineating cerebellar mechanisms in DYT11 myoclonus‐dystonia
Author(s) -
Sadnicka Anna,
Galea Joseph M.,
Chen JuiCheng,
Warner Thomas T.,
Bhatia Kailash P.,
Rothwell John C.,
Edwards Mark J.
Publication year - 2018
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.27517
Subject(s) - saccadic masking , dystonia , neuroscience , myoclonus , psychology , physical medicine and rehabilitation , cerebellum , movement disorders , adaptation (eye) , eye movement , medicine , pathology , disease
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. © 2018 International Parkinson and Movement Disorder Society