Disorganized Sensorimotor Integration in Mutation-Positive Myoclonus-Dystonia

Beukers, Richard J.; Foncke, E.M.J.; Meer, Johan N. van der; Nederveen, Aart J.; Ruiter, Michiel B. de; Bour, L.J.; Veltman, Dick J.; Tijssen, Marina A. J.

doi:10.1001/archneurol.2010.54

Cited by 36 publications

(23 citation statements)

References 29 publications

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“…This might be explained by 'overflow' of activation of the motor cortex, which is common in dystonia and is in line with previous findings in MD (Beukers et al, 2010). Overactivity of the premotor areas with subsequent overactivity of the primary motor cortex during voluntary movements has been demonstrated (Beukers et al, 2010).…”

Section: Response Inhibitionsupporting

confidence: 88%

Functional MRI study of response inhibition in myoclonus dystonia

Salm¹,

Meer²,

Nederveen³

et al. 2013

Experimental Neurology

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Section: Response Inhibitionsupporting

confidence: 88%

Functional MRI study of response inhibition in myoclonus dystonia

Salm¹,

Meer²,

Nederveen³

et al. 2013

Experimental Neurology

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“…This hypothesis is supported by recent literature: (1) there is a shift from dysfunction of the basal ganglia towards involvement of the cerebellum in dystonia pathogenesis; 26 (2) several animal models linked dystonia to abnormal cerebellar signaling and cerebellar defects, and cerebellar lesions leading to dystonia have been observed in patients; 26,27 (3) fMRI analysis of genetically confirmed M-D patients suggests involvement of thalamus and cerebellum (dentate nucleus) 28 and involvement of different cortical areas and cerebellum. 29 Figure 2 SGCE expression levels (qPCR). Displayed are expression levels for total SGCE (a) and SGCE exon 11b (b) transcripts of the five tested control subjects normalized to GAPDH.…”

Section: Discussionmentioning

confidence: 99%

SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?

et al. 2010

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Myoclonus-dystonia (M-D) is a neurological movement disorder with involuntary jerky and dystonic movements as major symptoms. About 50% of M-D patients have a mutation in e-sarcoglycan (SGCE), a maternally imprinted gene that is widely expressed. As little is known about SGCE function, one can only speculate about the pathomechanisms of the exclusively neurological phenotype in M-D. We characterized different SGCE isoforms in the human brain using ultra-deep sequencing. We show that a major brain-specific isoform is differentially expressed in the human brain with a notably high expression in the cerebellum, namely in the Purkinje cells and neurons of the dentate nucleus. Its expression was low in the globus pallidus and moderate to low in caudate nucleus, putamen and substantia nigra. Electrophysiological studies in man suggest that myoclonic symptoms are of subcortical origin. [1][2][3] In general, dystonia is thought to arise from dysfunction of the basal ganglia. 4 About 50% of M-D patients who were classified as definite M-D carry a mutation in the widely expressed e-sarcoglycan (SGCE). [5][6][7] The genetic cause in the remaining patients is still unclear. A second locus has been reported in one large M-D family (DYT15, 18p11), but no gene has been identified yet. 8,9 SGCE is part of the sarcoglycan family that consists of N-glycosylated transmembrane proteins. Six different sarcoglycans have been identified so far (a-, b-, g-, d-, e-and z-), but little is known about the function of particular sarcoglycan members and their function in different tissues. 10 In muscles, sarcoglycans form a heterotetrameric complex that is constituent of the dystrophinassociated protein complex. This complex mediates the structural stability of the plasma membrane and interactions between the extracellular matrix and the cytoskeleton. 11 Mutations in other sarcoglycans, a-, b-, g-and d-sarcoglycan, lead to different forms of limb-girdle muscular dystrophy, characterized by progressive muscle weakness. 10 Little is known about composition and function of the dystrophin-associated protein complex in the brain. SGCE is highly homologous to a-sarcoglycan, 12 but no muscle

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“…Disruption to monoamine metabolism is thought to underlie development of some of these symptoms, with imaging and pathological studies indicating a central role for the amygdala and cortico-limbic pathways [44]. Similar anatomical regions have been implicated in DYT11 cohorts with loss of inhibition thought to contribute to the motor hyperkinesis and co-morbid anxiety [36]. Monoamine involvement has also been implicated in DYT12 cohorts with altered levels detected in CSF studies and immunostaining localizing the NA/K-ATPase to the basal ganglia of mouse models [38,45].…”

Section: Discussionmentioning

confidence: 99%

“…Executive dysfunction, in particular verbal memory and sequence learning, was the most widely observed specific impairment, most robustly demonstrated in those with DYT1, SGCE and ATP1A3 mutations. Imaging studies have suggested that integrity of fronto-parietal brain networks, particularly white matter structures, are integral to these functions and overlap with those areas highlighted during imaging of DYT11 and DYT1 cohorts [36,56].…”

Section: Discussionmentioning

confidence: 99%

“…This found increased responsiveness in the primary and secondary somatosensory cortices, dorsolateral prefrontal cortex and ipsilateral premotor cortex in MC cases compared to the controls [36]. Finally, the SF-36 tool was used to assess quality of life in ten SGCE-mutation positive cases before and after undergoing DBS surgery.…”

Section: Dyt11: Myoclonus Dystoniamentioning

confidence: 99%

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