Pallidal deep brain stimulation for DYT6 dystonia

Panov, Fedor; Tagliati, Michele; Ozelius, Laurie J.; Fuchs, Tania; Gologorsky, Yakov; Cheung, Tyler; Avshalumov, Marat V.; Bressman, Susan; Saunders‐Pullman, Rachel; Weisz, Donald J.; Alterman, Ron L.

doi:10.1136/jnnp-2011-300979

Cited by 80 publications

(69 citation statements)

References 30 publications

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“…These results mirror previously published experiences supporting the value of surgery for the treatment of SD and reflect the general efficacy of DBS as a treatment for primary dystonia [34,35,36,37,38]. In contrast to the immediate effects of DBS on essential tremor and Parkinson's disease, the clinical response to DBS for dystonia may not manifest for weeks to months [36,40,41].…”

Section: Discussionsupporting

confidence: 85%

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Deep Brain Stimulation for Status Dystonicus: A Case Series and Review of the Literature

Ben-Haim¹,

Flatow²,

Cheung

et al. 2016

Stereotact Funct Neurosurg

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Background: Status dystonicus (SD) is a rare and potentially life-threatening complication of primary or secondary dystonia, characterized by acute worsening of dystonic movements. There is no consensus regarding optimal treatment, which may be medical and/or surgical. Methods: We present our experience with pallidal deep brain stimulation (DBS) in 5 DYT1-positive patients with SD and provide a review of the literature to examine optimal management. Results: Of the 5 patients treated with pallidal DBS, all experienced postoperative resolution of their dystonic crisis within a range of 1-21 days. Long-term follow-up resulted in 1 patient returning to preoperative baseline, 3 patients improving from baseline, and 1 patient making a complete recovery. Of the 28 SD patients (including our 5 patients) reported in the literature who were treated with DBS or ablative surgery, 26 experienced cessation of their dystonic crisis with a return to baseline function and, in most cases, clinical improvement. Conclusion: DBS is an effective therapeutic modality for the treatment of SD. In addition to the long-term benefits of stimulation, early and aggressive treatment may improve the overall outcome.

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Section: Discussionsupporting

confidence: 85%

“…Over the past 15 years, DBS of the globus pallidus pars interna (GPi) has been used to treat dystonia in both children and adults with favorable short- and long-term results [31,32,33,34,35,36,37,38]. Coubes et al [23] first reported the successful use of pallidal DBS for the treatment of acute SD in 1999.…”

Section: Introductionmentioning

confidence: 99%

Deep Brain Stimulation for Status Dystonicus: A Case Series and Review of the Literature

Ben-Haim¹,

Flatow²,

Cheung

et al. 2016

Stereotact Funct Neurosurg

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“…Indeed one of the three (with DYT11) showed an 81% improvement in BFM-S; the patients with DYT6 showed 23% and 52% improvements. The patient with DYT11 (myoclonus dystonia) also saw an improvement in myoclonic symptoms, although this was not quantified, The literature concerning the response to DBS in patients with mutations at loci other than DYT1 is sparse, however in the small numbers with DYT627 28 and DYT1129 that have been reported, the results have been encouraging. It is clear at least that individual cases with DYT6 or DYT11 mutations have the potential to respond as well to treatment as the typical patient with DYT1 does.…”

Section: Discussionmentioning

confidence: 96%

Long-term outcome of deep brain stimulation in generalised dystonia: a series of 60 cases

FitzGerald

Rosendal

Pennington

et al. 2014

J Neurol Neurosurg Psychiatry

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Background There is solid evidence of the long term efficacy of deep brain stimulation of the globus pallidus pars interna in the treatment of generalised dystonia. However there are conflicting reports concerning whether certain subgroups gain more benefit from treatment than others. We analysed the results of a series of 60 cases to evaluate the effects of previously proposed prognostic factors including dystonia aetiology, dystonia phenotype, age at onset of dystonia, and duration of dystonia prior to treatment. Methods 60 patients with medically intractable primary or secondary generalised dystonia were treated with deep brain stimulation of the globus pallidus pars interna during the period 1999-2010 at the Department of Neurosurgery in Oxford, UK. Patients were assessed using the Burke-Fahn-Marsden (BFM) Dystonia Rating Scale prior to surgery, 6 months after implantation and thereafter at 1 year, 2 years and 5 years follow-up. Results The group showed mean improvements in the BFM severity and disability scores of 43% and 27%, respectively, by 6 months, and this was sustained. The results in 11 patients with DYT gene mutations were significantly better than in non-genetic primary cases. The results in 12 patients with secondary dystonia were not as good as those seen in non-genetic primary cases but there remained a significant beneficial effect. Age of onset of dystonia, duration of disease prior to surgery, and myoclonic versus torsional disease phenotype had no significant effect on outcome. Conclusions The aetiology of dystonia was the sole factor predicting a better or poorer outcome from globus pallidus pars interna stimulation in this series of patients with generalised dystonia. However even the secondary cases that responded the least well had a substantial reduction in BFM scores compared with preoperative clinical assessments, and these patients should still be considered for deep brain stimulation.

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“…However, recent reports of GPi DBS in a small number of patients with DYT6 have shown less robust results than in DYT1 patients. Panov et al [8] reported that DYT6 patients initially responded to pallidal stimulation much like DYT1 patients, but seemed to regress after 1-2 years of stimulation. This was also observed for the patient described here.…”

Section: Discussionmentioning

confidence: 99%

“…While medical therapy for primary dystonia is largely unsatisfactory, deep brain stimulation (DBS) of the globus pallidus internus (GPi) is demonstrated to be a safe and effective intervention for a wide range of dystonia subtypes, including DYT6 dystonia [5,6]. However, recent reports have also shown that unlike other primary dystonias such as DYT1 dystonia, DYT6 dystonia is often treated unsatisfactorily with pallidal DBS [7,8,9]. Here, we report a striking benefit obtained with DBS of the thalamic ventral lateral anterior (VLa) nucleus in a patient with DYT6 dystonia whose symptoms were refractory to both pharmacotherapy and GPi DBS.…”

Section: Introductionmentioning

confidence: 99%

Deep Brain Stimulation of the Thalamic Ventral Lateral Anterior Nucleus for DYT6 Dystonia

Mure

Morigaki

Koizumi

et al. 2014

Stereotact Funct Neurosurg

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Background: A missense mutation of the THAP1 gene results in DYT6 primary dystonia. While deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in treating primary dystonia, recent reports indicate that GPi DBS is only mildly effective for DYT6 dystonia. Objective: To describe a patient with DYT6 dystonia who underwent thalamic ventral lateral anterior (VLa) nucleus DBS. Patient: A 35-year-old Japanese man had been experiencing upper limb dystonia and spasmodic dysphonia since the age of 15. His dystonic symptoms progressed to generalized dystonia. He was diagnosed as having DYT6 dystonia with mutations in the THAP1 gene. Because his dystonic symptoms were refractory to pharmacotherapy and pallidal DBS, he underwent thalamic VLa DBS. Results: Continuous bilateral VLa stimulation with optimal parameter settings ameliorated the patient's dystonic symptoms. At the 2-year follow-up, his Burke-Fahn-Marsden Dystonia Rating Scale total score decreased from 71 to 11, an improvement of more than 80%. Conclusions: The thalamic VLa nucleus could serve as an alternative target in DBS therapy for DYT6 dystonia.

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Pallidal deep brain stimulation for DYT6 dystonia

Abstract: While early results of pallidal DBS for DYT6 dystonia are encouraging, further research and additional subjects are needed both to optimise stimulation parameters for this population and to elucidate more accurately their response to surgical treatment.

Cited by 80 publications

References 30 publications

Deep Brain Stimulation for Status Dystonicus: A Case Series and Review of the Literature

Deep Brain Stimulation for Status Dystonicus: A Case Series and Review of the Literature

Long-term outcome of deep brain stimulation in generalised dystonia: a series of 60 cases

Deep Brain Stimulation of the Thalamic Ventral Lateral Anterior Nucleus for DYT6 Dystonia

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