Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in
                        DYT6 Generalized Dystonia

Oterdoom, D L Marinus; Egmond, Martje E van; Ascencao, Luisa Cassini; Dijk, J. Marc C. van; Saryyeva, Assel; Beudel, Martijn; Runge, Joachim; Koning, Tom J. de; Abdallat, Mahmoud; Eggink, Hendriekje; Tijssen, Marina A. J.; Krauss, Joachim K.

doi:10.5334/tohm.409

Cited by 15 publications

(14 citation statements)

References 11 publications

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“…The understanding of the genetic basis of monogenic and sporadic forms of dystonia will permit the identification and deeper knowledge of dystonia’s pathogenesis. This will provide physicians with more personalized tools to manage dystonia in the future, even from the time of diagnosis, and they may also be used for assessing the biological progression of the disease and guide the treatment decisions 128. Implications, even at the DNA and/or RNA level, are already considered as new possible targeted therapeutic approaches 53,80.…”

Section: Discussionmentioning

confidence: 99%

Risk Factor Genes in Patients with Dystonia: A Comprehensive Review

Siokas

Aloizou

Tsouris

et al. 2019

Tremor and Other Hyperkinetic Movements

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Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there is increasing evidence suggesting that a small number of gene alterations may lead to dystonia. Although pathogenic variants to the familial type of dystonia have been extensively reviewed and discussed, relatively little is known about the contribution of singlenucleotide polymorphisms (SNPs) to dystonia. This review focuses on the potential role of SNPs and other variants in dystonia susceptibility. Methods: We searched the PubMed database for peer-reviewed articles published in English, from its inception through January 2018, that concerned human studies of dystonia and genetic variants. The following search terms were included: ''dystonia'' in combination with the following terms: 1) ''polymorphisms'' and 2) ''SNPs'' as free words.

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Section: Discussionmentioning

confidence: 99%

Risk Factor Genes in Patients with Dystonia: A Comprehensive Review

Siokas

Aloizou

Tsouris

et al. 2019

Tremor and Other Hyperkinetic Movements

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“…A recent larger study of 14 THAP1 dystonia patients treated with GPi DBS with median follow up of 4 years found an average BFMDS improvement of 49% with limited improvements in speech noted, two non-responders and four patients with delayed worsening (48). Delayed worsening in THAP1 with improvement after lead repositioning has been reported in several patients (41,43,49). Concerns for effectiveness of GPi DBS in THAP1 dystonia have led to alternative DBS targets being explored.…”

Section: Dyt-thap1 (Dyt6)mentioning

confidence: 99%

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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“…To date, 30 GPi DBS and 8 ablative pallidotomy procedures have been separately described as isolated case reports, with varying success rates (Table 4). [2][3][4]6,7,11,14,19,[21][22][23]28,30,34,40,41,44,45 Ablative procedures, such as thalamotomy and pallidotomy, were the first surgical treatments used in SD patients. 37 In 1998, Manji et al performed for the first time 2-stage ventrolateral thalamic nuclei lesioning in a 9-yearold boy with severe SD and a unilateral left thalamotomy in a 38-year-old woman affected by a prevalent right-sided severe postencephalitic hemidystonia.…”

Section: Review Of the Literaturementioning

confidence: 99%

“…28 In addition, several reports have described the onset of severe or fatal SD as a consequence of a DBS depleted battery or lead dislocation. [34][35][36] Also, DBS may not be effective in resolving SD. In a recent study by Nerrant et al, 2 patients died as a direct consequence of refractory SD, despite attempts at subsequent rescue DBS therapy.…”

mentioning

confidence: 99%

Deep brain stimulation versus pallidotomy for status dystonicus: a single-center case series

Levi

Zorzi

Messina

et al. 2021

Journal of Neurosurgery

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OBJECTIVEFirst-line pharmacological therapies have shown limited efficacy in status dystonicus (SD), while surgery is increasingly reported as remediable in refractory cases. In this context, there is no evidence regarding which neurosurgical approach is the safest and most effective. The aim of this study was to assess the clinical outcomes and surgery-related complications of globus pallidus internus deep brain stimulation (GPi DBS) and pallidotomy for the treatment of drug-resistant SD.METHODSThe authors reviewed the records of patients with drug-resistant SD who had undergone GPi DBS or pallidotomy at their institution between 2003 and 2017. The severity of the dystonia was evaluated using the Barry-Albright Dystonia (BAD) Scale. Surgical procedures were performed bilaterally in all cases.RESULTSFourteen patients were eligible for inclusion in the study. After surgery, the mean follow-up was 40.6 ± 30 months. DBS ended the dystonic storm in 87.5% of cases (7/8), while pallidotomy had a success rate of 83.3% (5/6). No significant differences were observed between the two techniques in terms of failure rates (risk difference DBS vs pallidotomy −0.03, 95% CI −0.36 to 0.30), SD mean resolution time (DBS 34.8 ± 19 days, pallidotomy 21.8 ± 20.2 days, p > 0.05), or BAD scores at each postoperative follow-up (p > 0.05). The long-term hardware complication rate after DBS was 37.5%, whereas no surgery-related complications were noted following pallidotomy.CONCLUSIONSThe study data suggest that DBS and pallidotomy are equally safe and effective therapies for drug-resistant SD. The choice between the two techniques should be tailored on a case-by-case basis, depending on factors such as the etiology and evolution pattern of the underlying dystonia and the clinical conditions at the moment of SD onset. Given the limitation of the low statistical power of this study, further multicentric investigations are needed to confirm its findings.

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Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia

Cited by 15 publications

References 11 publications

Risk Factor Genes in Patients with Dystonia: A Comprehensive Review

Risk Factor Genes in Patients with Dystonia: A Comprehensive Review

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

Deep brain stimulation versus pallidotomy for status dystonicus: a single-center case series

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