Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia

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Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. / Sadnicka, Anna; Galea, Joseph M; Chen, Jui-Cheng; Warner, Thomas T; Bhatia, Kailash P; Rothwell, John C; Edwards, Mark J.

In: Movement Disorders, 17.10.2018.

Research output: Contribution to journalArticlepeer-review

Harvard

Sadnicka, A, Galea, JM, Chen, J-C, Warner, TT, Bhatia, KP, Rothwell, JC & Edwards, MJ 2018, 'Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia', Movement Disorders. https://doi.org/10.1002/mds.27517

APA

Sadnicka, A., Galea, J. M., Chen, J-C., Warner, T. T., Bhatia, K. P., Rothwell, J. C., & Edwards, M. J. (2018). Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. Movement Disorders. https://doi.org/10.1002/mds.27517

Vancouver

Author

Sadnicka, Anna ; Galea, Joseph M ; Chen, Jui-Cheng ; Warner, Thomas T ; Bhatia, Kailash P ; Rothwell, John C ; Edwards, Mark J. / Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. In: Movement Disorders. 2018.

Bibtex

@article{62971e1e93264060be995f7bea60b824,
title = "Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia",
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.",
keywords = "Dystonia, DYT11, cerebellum, adaptation, ɛ‐sarcoglycan",
author = "Anna Sadnicka and Galea, {Joseph M} and Jui-Cheng Chen and Warner, {Thomas T} and Bhatia, {Kailash P} and Rothwell, {John C} and Edwards, {Mark J}",
note = "{\textcopyright} 2018 International Parkinson and Movement Disorder Society.",
year = "2018",
month = oct,
day = "17",
doi = "10.1002/mds.27517",
language = "English",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "Wiley",

}

RIS

TY - JOUR

T1 - Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia

AU - Sadnicka, Anna

AU - Galea, Joseph M

AU - Chen, Jui-Cheng

AU - Warner, Thomas T

AU - Bhatia, Kailash P

AU - Rothwell, John C

AU - Edwards, Mark J

N1 - © 2018 International Parkinson and Movement Disorder Society.

PY - 2018/10/17

Y1 - 2018/10/17

N2 - 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.

AB - 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.

KW - Dystonia

KW - DYT11

KW - cerebellum

KW - adaptation

KW - ɛ‐sarcoglycan

U2 - 10.1002/mds.27517

DO - 10.1002/mds.27517

M3 - Article

C2 - 30334277

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

ER -