Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data

Wang, Xin; Yu, Xinguang

doi:10.1007/s10143-019-01233-x

Cited by 19 publications

(26 citation statements)

References 49 publications

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“…In this study motor improvement was marked with myoclonus improving by 94%, dystonia by 71%, 88% improvement in disability score and significantly improved function and social adjustment (79). A recent meta analysis of individual patient outcomes in 71 patients with myoclonus dystonia and GPi DBS found an average improvement in unified myoclonus rating scale of 79.5% and significant improvements in dystonia motor and disability scores with possible predictive factors for superior myoclonus outcome including shorter disease duration (80). Thalamic stimulation targeting the VIM nucleus appears to be an effective alternative to GPi DBS (73, 81), however pallidal stimulation is generally considered the preferred target (82).…”

Section: Dyt-sgce (Dyt11)mentioning

confidence: 52%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults. Predictive factors for the degree of improvement after GPi DBS include shorter disease duration and dystonia subtype with idiopathic isolated dystonia usually responding better than acquired combined dystonias. Other factors contributing to variability in outcome may include body distribution, pattern of dystonia and DBS related factors such as lead placement and stimulation parameters. The responsiveness to DBS appears to vary between different monogenic forms of dystonia, with some improving more than others. The first observation in this regard was reports of superior DBS outcomes in DYT-TOR1A (DYT1) dystonia, although other studies have found no difference. Recently a subgroup with young onset DYT-TOR1A, more rapid progression and secondary worsening after effective GPi DBS, has been described. Myoclonus dystonia due to DYT-SCGE (DYT11) usually responds well to GPi DBS. Good outcomes following GPi DBS have also been documented in X-linked dystonia Parkinsonism (DYT3). In contrast, poorer, more variable DBS outcomes have been reported in DYT-THAP1 (DYT6) including a recent larger series. The outcome of GPi DBS in other monogenic isolated and combined dystonias including DYT-GNAL (DYT25), DYT-KMT2B (DYT28), DYT-ATP1A3 (DYT12), and DYT-ANO3 (DYT24) have been reported with varying results in smaller numbers of patients. In this article the available evidence for long term GPi DBS outcome between different genetic dystonias is reviewed to reappraise popular perceptions of expected outcomes and revisit whether genetic diagnosis may assist in predicting DBS outcome.

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Section: Dyt-sgce (Dyt11)mentioning

confidence: 52%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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“…Even prior to the next generation sequencing era, it was known that patients with DYT‐ TOR1A do exceedingly well after GPi‐DBS with 60%–90% improvement in dystonia scores compared to baseline 4–6 . The outcomes in other monogenic dystonia syndromes including DYT‐ THAP1 and DYT‐ SGCE are less robust while some genetic dystonias such as DYT‐ ATP1A3 are unlikely to respond to DBS at all 7–9 . DYT‐ KMT2B is a recent addition to the list of monogenic dystonias with a predictable response to DBS 10 .…”

mentioning

confidence: 99%

“…[4][5][6] The outcomes in other monogenic dystonia syndromes including DYT-THAP1 and DYT-SGCE are less robust while some genetic dystonias such as DYT-ATP1A3 are unlikely to respond to DBS at all. [7][8][9] DYT-KMT2B is a recent addition to the list of monogenic dystonias with a predictable response to DBS. 10 The KMT2B (Histone-lysine N-methyltransferase 2B) gene is associated with early-onset generalized dystonia with a complex phenotype including facial dysmorphism, intellectual disability and prominent gait and laryngeal dystonia with anarthria in many affected individuals.…”

mentioning

confidence: 99%

GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis

Rajan

Garg

Saini

et al. 2021

Movement Disord Clin Pract

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Background Early evidence suggests good response to pallidal deep brain stimulation (DBS) in DYT‐KMT2B. Objectives We aimed to conduct a systematic review and meta‐analysis to assess outcomes and identify predictors of good outcome following GPi‐DBS in DYT‐KMT2B. Methods We searched MEDLINE, Cochrane and MDS‐abstracts databases using the MeSH terms “KMT2B and DYT28”. We included studies that reported objective outcomes following GPi‐DBS in DYT‐KMT2B. The BFMDRS‐M (Burke‐Fahn‐Marsden Dystonia Rating Scale‐ Movement) total scores pre‐ and post‐surgery were used to quantify outcomes. We calculated pooled effects using a random effects meta‐analysis and used meta‐regression to identify potential effect modifiers. Multiple linear regression using individual patient data was used to identify predictors of good outcome (>50% improvement from baseline on BFMDRS‐M). Results Initial searches screened 132 abstracts of which 34 full‐text articles were identified to be of potential interest. Ten studies reporting 42 individual patients, met the inclusion/exclusion criteria and were included in the final review. The mean age at onset was 6.4 ± 5.7 years and 40% were male. The median follow‐up was 12 months (range: 1–264 months). GPi‐DBS resulted in median BFMDRS‐M improvement of 42.7% (range: −103.5% to 95.9%) postoperatively. Pooled proportion of patients experiencing clinical improvement >50% on BFMDRS‐M was 41% (95% CI: 27%–57%). Male gender [β: 22.6, 95% CI: 8.0–37.3, P = 0.004), and higher pre‐operative BFMDRS‐M score [β: 0.62, 95% CI: 0.36–0.87, P < 0.001) were independently associated with better outcome. Conclusion KMT2B‐associated dystonia responds effectively to pallidal stimulation. The outcome is better in males and those with more severe dystonia at baseline.

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“…A number of cases of SGCE-negative myoclonic dystonia have responded well to DBS suggesting a benefit for the phenotype, irrespective of underlying genetics [19,20,80]. A recent meta-analysis with individual patient data from 71 patients (51 of whom carried an SGCE mutation) confirmed 94.1% showed a >50% improvement in Unified Myoclonus Rating Scale and 79.6% showed a >50% improvement in Burke-Fahn-Marsden Dystonia Rating Scale movement score [81]. There was no difference in efficacy between targets for either outcome.…”

Section: Deep Brain Stimulationmentioning

confidence: 99%

“…There was no difference in efficacy between targets for either outcome. However, pallidal stimulation appears to be associated with fewer adverse stimulation-induced events and most studies have employed GPi-DBS to date [81]. In a small case series, a single patient, in whom bilateral VIM-DBS failed to control progressive dystonia after surgery, benefited from GPI-DBS suggesting that a pallidal target may be more effective for the dystonic component of M-D [82].…”

Section: Deep Brain Stimulationmentioning

confidence: 99%

Medical management of myoclonus-dystonia and implications for underlying pathophysiology

Fearon

Peall

Vidailhet

et al. 2020

Parkinsonism & Related Disorders

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Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilonsarcoglycan gene but the syndrome of "myoclonic dystonia" has been shown to be a heterogeneous group of genetic disorders. The underlying pathophysiology of myoclonus-dystonia is incompletely understood, although it may relate to dysfunction of striatal monoamine neurotransmission or disruption of cerebellothalamic networks (possibly via a GABAergic deficit of Purkinje cells). A broad range of oral medical therapies have been used in the treatment of myoclonus-dystonia with a varying response, and limited data relating to efficacy and tolerability, yet this condition responds dramatically to alcohol. Few well conducted randomized controlled trials have been undertaken leading to an empirical ad hoc approach for many patients. We review the current evidence for pharmacological therapies in myoclonus-dystonia, discuss implications for underlying pathogenesis of the condition and propose a treatment algorithm for these patients.

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Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data

Cited by 19 publications

References 49 publications

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis

Medical management of myoclonus-dystonia and implications for underlying pathophysiology

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