Functional MRI study of response inhibition in myoclonus dystonia

Salm, Sandra; Meer, Johan N. van der; Nederveen, Aart J.; Veltman, Dick J.; Rootselaar, A.F. van; Tijssen, Marina A. J.

doi:10.1016/j.expneurol.2013.02.017

Cited by 23 publications

(15 citation statements)

References 38 publications

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“…26,27 In DYT11 myoclonus-dystonia patients, the motor cortical areas are overactivated during movements 32 and could induce a dysfunction of the motor striatum. 33 Dysfunction of the striato-pallidal pathway also could be related to overactivity of the parasagittal cerebellum and anterior cerebellar lobe found in DYT11 myoclonus-dystonia patients. 33,34 These hypotheses are also supported by the fact that the e-sarcoglycan protein is highly expressed in both dopaminergic neurons and cerebellar Purkinje cells.…”

Section: Discussionmentioning

confidence: 99%

“…33 Dysfunction of the striato-pallidal pathway also could be related to overactivity of the parasagittal cerebellum and anterior cerebellar lobe found in DYT11 myoclonus-dystonia patients. 33,34 These hypotheses are also supported by the fact that the e-sarcoglycan protein is highly expressed in both dopaminergic neurons and cerebellar Purkinje cells. 35 In addition, e-sarcoglycan knockout mice, which exhibited myoclonus, 36 had modification of dopamine striatal level.…”

Section: Discussionmentioning

confidence: 99%

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Pallidal activity in myoclonus dystonia correlates with motor signs

et al. 2015

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pallidal activity in myoclonus dystonia correlates with motor signs

et al. 2015

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“…Previous fMRI studies found that MFG was involved in motor inhibition [ 31 , 32 ]. The impaired motor inhibition has been also reported in a wide range of movement disorders [ 10 , 33 ]. According to the above-mentioned findings, the decreased ReHo in MFG indicated that HFS patients could be abnormal in inhibitory motor control.…”

Section: Discussionmentioning

confidence: 99%

Altered Spontaneous Brain Activity in Patients with Hemifacial Spasm: A Resting-State Functional MRI Study

Wei

Kim

et al. 2015

PLoS ONE

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Resting-state functional magnetic resonance imaging (fMRI) has been used to detect the alterations of spontaneous neuronal activity in various neurological and neuropsychiatric diseases, but rarely in hemifacial spasm (HFS), a nervous system disorder. We used resting-state fMRI with regional homogeneity (ReHo) analysis to investigate changes in spontaneous brain activity of patients with HFS and to determine the relationship of these functional changes with clinical features. Thirty patients with HFS and 33 age-, sex-, and education-matched healthy controls were included in this study. Compared with controls, HFS patients had significantly decreased ReHo values in left middle frontal gyrus (MFG), left medial cingulate cortex (MCC), left lingual gyrus, right superior temporal gyrus (STG) and right precuneus; and increased ReHo values in left precentral gyrus, anterior cingulate cortex (ACC), right brainstem, and right cerebellum. Furthermore, the mean ReHo value in brainstem showed a positive correlation with the spasm severity (r = 0.404, p = 0.027), and the mean ReHo value in MFG was inversely related with spasm severity in HFS group (r = -0.398, p = 0.028). This study reveals that HFS is associated with abnormal spontaneous brain activity in brain regions most involved in motor control and blinking movement. The disturbances of spontaneous brain activity reflected by ReHo measurements may provide insights into the neurological pathophysiology of HFS.

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“…[39][40][41] Extinction of the CR is an active inhibitory process that might rely more on the cerebellar cortex and the external inputs to the cerebellum. 39 Despite the clinical absence of ataxia or cerebellar tremor, cerebellar dysfunction in manifesting M-D is supported by neuroimaging studies demonstrating hyperactivation of the anterior cerebellum in functional magnetic resonance imaging tasks 16 and increased metabolism in the parasagittal cerebellum. 15 Cerebellar dysfunction is also supported by the failure of M-D patients to adapt their saccades during a backward-reactive adaptation task.…”

Section: Discussionmentioning

confidence: 99%

The Neurophysiological Features of Myoclonus-Dystonia and Differentiation From Other Dystonias

et al. 2014

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IMPORTANCE Myoclonus-dystonia (M-D) is a clinical syndrome characterized by a combination of myoclonic jerks and mild to moderate dystonia. The syndrome is related to ε-sarcoglycan (SGCE) gene mutations in about half the typical cases. Whether the M-D phenotype reflects a primary dysfunction of the cerebellothalamocortical pathway or of the striatopallidothalamocortical pathway is unclear. The exact role of an additional cortical dysfunction in the pathogenesis of M-D is also unknown. OBJECTIVE To clarify the neurophysiological features of M-D and discuss whether M-D due to SGCE deficiency differs from other primary dystonias. DESIGN, SETTING, AND PARTICIPANTS We studied a referred sample of 12 patients with M-D (mean [SD] age, 28.8 [6.2] years; age range, 19-38 years; 5 women) belonging to 11 unrelated families with a proven mutation or deletion of the SGCE gene and a group of 12 age-and sex-matched healthy control individuals. Every participant underwent 3 sessions exploring the excitability of the primary motor cortex, the response of the primary motor cortex to a plasticity-inducing protocol, and the cerebellar-dependent eye-blink classic conditioning (EBCC). The clinical evaluation of patients included the Unified Myoclonus Rating Scale and Burke-Fahn-Marsden Dystonia Rating Scale. EXPOSURE Myoclonus-dystonia with a proven SGCE mutation. MAIN OUTCOMES AND MEASURES We measured resting and active motor thresholds, and short-interval intracortical inhibition and facilitation. The plasticity of the motor cortex was evaluated before and for 30 minutes after 600 pulses of rapid paired associative stimulation. The cerebellar functioning was evaluated with the number of conditioned responses during the 6 blocks of EBCC and 1 extinction block. All data were compared between the 2 groups. For patients, correlations were explored between electrophysiological data and clinical scores. RESULTS We found lower membrane excitability of the corticocortical axons and normal intracortical γ-aminobutyric acid inhibition in contrast with what has been described in other forms of primary dystonia. Myoclonus-dystonia patients also shared some common pathophysiological features of dystonia, including enhanced responsiveness of the motor cortex to plasticity induction and abnormal response to cerebellar conditioning as tested by EBCC. CONCLUSIONS AND RELEVANCE Specific underlying dysfunctions are associated with the very particular clinical phenotype of M-D and make it a unique entity that stands apart from other primary dystonias.

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Functional MRI study of response inhibition in myoclonus dystonia

Cited by 23 publications

References 38 publications

Pallidal activity in myoclonus dystonia correlates with motor signs

Pallidal activity in myoclonus dystonia correlates with motor signs

Altered Spontaneous Brain Activity in Patients with Hemifacial Spasm: A Resting-State Functional MRI Study

The Neurophysiological Features of Myoclonus-Dystonia and Differentiation From Other Dystonias

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