Alcohol-Sensitive Generalized Dystonia

Micheli, Federico; Uribe-Roca, Claudia; Sáenz‐Farret, Michel

doi:10.1097/wnf.0000000000000199

Cited by 3 publications

(3 citation statements)

References 16 publications

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“…5,6 Patients with isolated generalized or focal hand dystonia also may respond to alcohol. 7,8 Given the limited evidence thus far, it remains inconclusive whether alcohol responsiveness relates to the presence of certain clinical variables, such as type of dystonia, a positive family history for movement disorders, or specific phenotypic characteristics, e.g., tremor.…”

Section: Resultsmentioning

confidence: 99%

Predictors of alcohol responsiveness in dystonia

et al. 2018

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ObjectiveTo determine predictors of alcohol responsiveness in a large cohort of patients with dystonia.MethodsA total of 2,159 participants with dystonia were prospectively enrolled in the cross-sectional Dystonia Coalition multicenter study. Patients with secondary, combined, or confirmed genetic dystonia (total n = 164) or unknown alcohol responsiveness (n = 737) were excluded. Patients answered a standardized questionnaire and were clinically examined using a standardized video protocol and the Burke-Fahn-Marsden Dystonia Rating Scale. Alcohol responsiveness was determined by patients' self-report.ResultsA total of 1,258 patients with isolated dystonia (mean age: 59.5 ± 12.2 years; 898 women) met the inclusion criteria; 369 patients (29.3%) reported improvement of dystonia after alcohol consumption. Alcohol responsiveness was not related to sex (p = 0.742), age (p = 0.715), or severity of dystonia (p = 0.623). Age at onset was lower in patients who responded to alcohol (p < 0.001). Alcohol responsiveness differed across dystonia subgroups (multifocal/generalized > segmental [p = 0.014]; cervical and laryngeal > cranial and limb [p < 0.001]) and was related to a positive family history of movement disorders (p = 0.001), and presence of tremor (p < 0.001).ConclusionThe association of alcohol responsiveness with a positive family history for movement disorders, generalized dystonia, and an earlier age at onset suggests that patients with dystonia who have an underlying genetic contribution may be more likely to respond beneficially to alcohol. The fact that dystonic tremor may respond to alcohol is in keeping with the observation that the intake of GABAergic drugs may have a beneficial effect in a proportion of patients.

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Section: Resultsmentioning

confidence: 99%

Predictors of alcohol responsiveness in dystonia

et al. 2018

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“…Another recent paper described the case of a 29‐year‐old male patient with generalized dystonia, for whom some anti‐dystonic treatments were ineffective while alcohol induced a dramatic improvement [ 104 ].…”

Section: Other Alcohol‐sensitive Dystoniasmentioning

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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“…Five tremor disorders responded to EtOH: essential tremor (ET), isolated vocal tremor (VT), primary writing tremor (PWT), orthostatic tremor (OT), and tremor in Kennedy’s disease [ 29 30 31 32 33 34 35 36 37 38 39 40 ]. Six alcohol-responsive dystonic disorders were reported: torticollis, abductor spasmodic dysphonia (ABSD), adductor spasmodic dysphonia (ADSD), ADSD in DYT-4 dystonia, dopa-responsive dystonia (DYT-5, DRD), and generalized dystonia [ 41 42 43 44 45 46 ]. Four alcohol-responsive myoclonic disorders have been reported: myoclonus-dystonia linked to epsilon sarcoglycan mutations (SCGE-MD), posthypoxic myoclonus (PHM), Unverricht-Lundborg disease (EPM-1), and sialidosis-type-1 [ 47 48 49 50 51 52 53 54 55 56 57 ].…”

Section: Literature Review: Alcohol-responsive Hyperkinetic Movement mentioning

confidence: 99%

Alcohol-Responsive Hyperkinetic Movement Disorders—a Mechanistic Hypothesis

Riboldi

2020

Tremor and Other Hyperkinetic Movements

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Patients with essential tremor, vocal tremor, torticollis, myoclonus-dystonia and posthypoxic myoclonus often benefit in a surprisingly rapid and robust manner from ingestion of a modest amount of alcohol (ethanol). Despite considerable investigation, the mechanism of ethanol's ability to produce this effect remains a mystery. In this paper, we review the pharmacology of ethanol and its analogue GHB (or sodium oxybate), summarize the published literature of alcohol-responsive hyperkinetic movement disorders, and demonstrate videos of patients we have treated over the last fifteen years with either an ethanol challenge or with chronic sodium oxybate therapy. We then propose a novel explanation for this phenomenon-namely, that ingestion of modest doses of ethanol (or sodium oxybate) normalizes the aberrant motor networks underling these disorders. We propose that alcohol and its analogues improve clinical symptoms and their physiologic correlate by restoring the normal firing pattern of the major outflow pathways of the cerebellum (the Purkinje cells and deep cerebellar nuclei), We present evidence to support this hypothesis in animal models and in affected patients, and suggest future investigations to test this model.

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Alcohol-Sensitive Generalized Dystonia

Cited by 3 publications

References 16 publications

Predictors of alcohol responsiveness in dystonia

Predictors of alcohol responsiveness in dystonia

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

Alcohol-Responsive Hyperkinetic Movement Disorders—a Mechanistic Hypothesis

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