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Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up

  • Clinical Article - Functional
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Abstract

Background

Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifestations. Deep brain stimulation (DBS) of bilateral internal globus pallidus (GPi) has recently been introduced as a new and beneficial technique to improve motor symptoms in MDS.

Methods

We report three proven genetically MDS cases with successful response to DBS, and their clinical evolution over years.

Results

DBS improves significantly the Unified Myoclonus Rating Scale and Burke–Fahn–Marsden Dystonia Rating Scale in all three patients. This improvement is sustained over the years and no major adverse events were recorded. DBS stimulation parameters employed are justified and compared with cases reported throughout the literature.

Discussion

DBS of bilateral GPi is an effective and safe therapy to be considered in MDS refractory cases. Careful neuropsychological evaluation is essential inside the presurgery planning. Correct location of the DBS electrodes and individualized selection of stimulation parameters in each case are the main determinants of the best clinical response.

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Authors and Affiliations

  1. Department of Neurology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain

    G. Fernández-Pajarín, A. Sesar, B. Ares, I. Jiménez-Martín & A. Castro

  2. Department of Clinical Neurophysiology, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain

    J. L. Relova

  3. Fundación Pública Galega de Medicina Xenómica-SERGAS, Centro para la Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain

    P. Blanco-Arias

  4. Department of Neurosurgery, Hospital Clínico Universitario de Santiago, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain

    M. Gelabert-González

Authors
  1. G. Fernández-Pajarín
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  2. A. Sesar
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  3. J. L. Relova
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  4. B. Ares
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  5. I. Jiménez-Martín
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  6. P. Blanco-Arias
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  7. M. Gelabert-González
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  8. A. Castro
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Corresponding author

Correspondence to G. Fernández-Pajarín.

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No funding was received for this research.

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The authors declare that they have no conflicts of interest.

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Informed consent was obtained from all individual participants included in this study.

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Cite this article

Fernández-Pajarín, G., Sesar, A., Relova, J.L. et al. Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up. Acta Neurochir 158, 2023–2028 (2016). https://doi.org/10.1007/s00701-016-2904-3

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  • DOI: https://doi.org/10.1007/s00701-016-2904-3

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