Severity of dystonia is correlated with putaminal gray matter changes in Myoclonus-Dystonia

Beukers, Richard J.; Meer, Johan N. van der; Salm, S.M. van der; Foncke, E.M.J.; Veltman, Dick J.; Tijssen, Marina A. J.

doi:10.1111/j.1468-1331.2010.03321.x

Cited by 18 publications

(17 citation statements)

References 33 publications

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“…Some studies associated FHD with anatomical abnormalities at the cortical level (Garraux et al, 2004; Delmaire et al, 2007), some others to sub-cortical irregularities (Draganski and Bhatia, 2010; Granert et al, 2011b). In particular, part of the evidence from structural brain imaging on the pathophysiology of dystonia highlights the role of aberrations in subcortical structures, including the basal ganglia (Bhatia and Marsden, 1994; Krystkowiak et al, 1998; Draganski et al, 2009; Beukers et al, 2011), mesencephalon (Vidailhet et al, 1999), and the cerebellum–thalamus–cortex axis (Argyelan et al, 2009). Conversely, other studies associated FHD with structural anomalies in the sensory-motor (Garraux et al, 2004; Delmaire et al, 2007) and the premotor cortex (Granert et al, 2011a).…”

Section: Sensory-motor Deficits In Focal Dystoniamentioning

confidence: 99%

Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

Perruchoud

Murray

Lefebvre

et al. 2014

Front. Hum. Neurosci.

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Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized by sensory and motor deficits in the absence of basic motor impairments. Despite the fundamental impact of sensory-motor integration mechanisms on daily life, the general principles of healthy and pathological anatomic–functional organization of sensory-motor integration remain to be clarified. Based on the available data from experimental psychology, neurophysiology, and neuroimaging, we propose a bio-computational model of sensory-motor integration: the Sensory-Motor Integrative Loop for Enacting (SMILE). Aiming at direct therapeutic implementations and with the final target of implementing novel intervention protocols for motor rehabilitation, our main goal is to provide the information necessary for further validating the SMILE model. By translating neuroscientific hypotheses into empirical investigations and clinically relevant questions, the prediction based on the SMILE model can be further extended to other pathological conditions characterized by impaired sensory-motor integration.

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Section: Sensory-motor Deficits In Focal Dystoniamentioning

confidence: 99%

Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

Perruchoud

Murray

Lefebvre

et al. 2014

Front. Hum. Neurosci.

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“…Finally, Beukers et al . [25] demonstrated that the severity of dystonia in MDS patients correlated with increased grey matter volumes in the putamen, highlighting the importance of this structure in MDS.…”

Section: Myoclonus-dystonia Syndrome (Mds; Dyt11)mentioning

confidence: 99%

Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias

Casper

Kalliolia²,

Warner³

2013

Current Neuropharmacology

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The majority of studies investigating the molecular pathogenesis and cell biology underlying dystonia have been performed in individuals with primary dystonia. This includes monogenic forms such as DYT1and DYT6 dystonia, and primary focal dystonia which is likely to be multifactorial in origin. In recent years there has been renewed interest in non-primary forms of dystonia including the dystonia-plus syndromes and heredodegenerative disorders. These are caused by a variety of genetic mutations and their study has contributed to our understanding of the neuronal dysfunction that leads to dystonia These findings have reinforced themes identified from study of primary dystonia including abnormal dopaminergic signalling, cellular trafficking and mitochondrial function. In this review we highlight recent advances in the understanding of the dystonia-plus syndromes and heredodegenerative dystonias.

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“…DYT‐ SGCE is the main cause of myoclonus‐dystonia and is the result of a mutation of the epsilon sarcoglican gene ( SGCE ). In DYT‐SGCE, and similarly to other dystonias, structural neuroimaging studies and pallidal neuronal activity recordings suggest a dysfunctional striato‐pallido‐thalamo‐cortical pathway . Interestingly, DBS of the internal globus pallidus (GPi) results in a dramatic and sustained improvement of both myoclonus and dystonia.…”

mentioning

confidence: 99%

Visual Sensory Processing is Altered in Myoclonus Dystonia

et al. 2019

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Background Abnormal sensory processing, including temporal discrimination threshold, has been described in various dystonic syndromes. Objective To investigate visual sensory processing in DYT‐SGCE and identify its structural correlates. Methods DYT‐SGCE patients without DBS (DYT‐SGCE‐non‐DBS) and with DBS (DYT‐SGCE‐DBS) were compared to healthy volunteers in three tasks: a temporal discrimination threshold, a movement orientation discrimination, and movement speed discrimination. Response times attributed to accumulation of sensory visual information were computationally modelized, with μ parameter indicating sensory mean growth rate. We also identified the structural correlates of behavioral performance for temporal discrimination threshold. Results Twenty‐four DYT‐SGCE‐non‐DBS, 13 DYT‐SGCE‐DBS, and 25 healthy volunteers were included in the study. In DYT‐SGCE‐DBS, the discrimination threshold was higher in the temporal discrimination threshold (P = 0.024), with no difference among the groups in other tasks. The sensory mean growth rate (μ) was lower in DYT‐SGCE in all three tasks (P < 0.01), reflecting a slower rate of sensory accumulation for the visual information in these patients independent of DBS. Structural imaging analysis showed a thicker left primary visual cortex (P = 0.001) in DYT‐SGCE‐non‐DBS compared to healthy volunteers, which also correlated with lower μ in temporal discrimination threshold (P = 0.029). In DYT‐SGCE‐non‐DBS, myoclonus severity also correlated with a lower μ in the temporal discrimination threshold task (P = 0.048) and with thicker V1 on the left (P = 0.022). Conclusion In DYT‐SGCE, we showed an alteration of the visual sensory processing in the temporal discrimination threshold that correlated with myoclonus severity and structural changes in the primary visual cortex. © 2019 International Parkinson and Movement Disorder Society

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Severity of dystonia is correlated with putaminal gray matter changes in Myoclonus-Dystonia

Abstract: This study provides further evidence for the involvement of putamina as important motor structures in the pathophysiology of (myoclonus-) dystonia. Changes in these structures are associated with the severity of dystonia.

Cited by 18 publications

References 33 publications

Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias

Visual Sensory Processing is Altered in Myoclonus Dystonia

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