Myoclonus-dystonia syndrome: case report

Akarsu, Emel Oğuz; Sürmeli, Reyhan; Yalcin, Destina

doi:10.14744/nci.2014.28247

Cited by 4 publications

(1 citation statement)

References 16 publications

(29 reference statements)

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“…Valproate has been used to treat myoclonus, but with only modest benefit [ 121 , 125 , 126 ]. Levetiracetam has also been tried with variable results [ 127 , 128 ]. Improvement with both levodopa [ 129 ] and tetrabenazine [ 130 ] has been described.…”

Section: New and Old Drugs For The Treatment Of Myoclonus‐dystonia An...mentioning

confidence: 99%

Synaptic effects of ethanol on striatal circuitry: therapeutic implications for dystonia

et al. 2021

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Alcohol consumption affects motor behavior and motor control. Both acute and chronic alcohol abuse have been extensively investigated, however the therapeutic efficacy of alcohol on some movement disorders, such as myoclonus-dystonia or essential tremor, still does not have a plausible mechanistic explanation. Yet, there are surprisingly few systematic trials with known GABAergic drugs mimicking the effect of alcohol on neurotransmission. In this brief survey, we aim to summarize the effects of ethanol (EtOH) on striatal function, providing an overview of its cellular and synaptic actions in a "circuitcentered" view. In addition, we will review both experimental and clinical evidence, in the attempt to provide a plausible mechanistic explanation for alcohol-responsive movement disorders, with particular emphasis on dystonia. Different hypotheses emerge, which may provide a rationale for the utilization of drugs that mimic alcohol effects, predicting potential drug repositioning.

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Section: New and Old Drugs For The Treatment Of Myoclonus‐dystonia An...mentioning

confidence: 99%

Synaptic effects of ethanol on striatal circuitry: therapeutic implications for dystonia

et al. 2021

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Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)

et al. 2016

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Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21-q31 represent the major genetic cause of M-D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M-D family (DYT15, 18p11), but no gene has been identified yet. In this review, we discuss genetic aspects of myoclonus-dystonia.

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