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Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome

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Abstract

Background

Myoclonus-dystonia (MD) is a syndrome characterized by subcortical myoclonus and milder dystonia. The main causative gene is the epsilon sarcoglycan gene (SGCE), but other genes may be involved. Response to medications is variable, with poor tolerability limiting their use.

Case presentation

We present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. At first neurological visit at the age of 46 years old, she presented brief myoclonic jerks predominating in the upper limbs and neck, mild at rest and elicited by action, posture and tactile stimulus. Myoclonus was accompanied by mild neck and right arm dystonia. Neurophysiological tests suggested subcortical origin of myoclonus, brain MRI was unremarkable. Myoclonus-dystonia was diagnosed, and genetic testing identified a novel mutation in SGCE gene (c.907delC) in heterozygosis. Over time she assumed a large variety of anti-epileptics without beneficial effect on myoclonus and low tolerability. Add-on treatment with Perampanel was started, with a beneficial effect. No adverse events were reported. Perampanel is the first selective non-competitive AMPA receptor antagonist approved in add-on for focal and generalized tonic–clonic seizures. To our knowledge, this is the first trial of Perampanel in MD.

Conclusions

We presented the case of a patient with MD due to SGCE mutation who was treated with Perampanel with beneficial effects. We propose Perampanel as a novel treatment for myoclonus in MD.

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Authors and Affiliations

  1. Unit of Neurology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

    Elisabetta Belli, Eleonora Del Prete, Elisa Unti, Sonia Mazzucchi, Giovanni Palermo & Roberto Ceravolo

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  1. Elisabetta Belli
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  2. Eleonora Del Prete
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  3. Elisa Unti
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  4. Sonia Mazzucchi
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  5. Giovanni Palermo
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  6. Roberto Ceravolo
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Correspondence to Roberto Ceravolo.

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The use of diagnostic and clinical information of patients in this study complied with the requirements of the clinical ethics committee of the Pisa Hospital. All authors confirm that we have read the journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.

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Belli, E., Del Prete, E., Unti, E. et al. Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome. Neurol Sci 44, 2943–2945 (2023). https://doi.org/10.1007/s10072-023-06803-y

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