Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

Danielsson, Annika; Carecchio, Miryam; Cif, Laura; Koy, Anne; Lin, Jean‐Pierre; Solders, Göran; Romito, Luigi; Lohmann, Katja; Garavaglia, Barbara; Reale, Chiara; Zorzi, Giovanna; Nardocci, Nardo; Coubes, Philippe; González, Victoria; Roubertie, Agathe; Collod‐Béroud, Gwenaëlle; Lind, Göran; Tedroff, Kristina

doi:10.3390/jcm8122163

Cited by 29 publications

(35 citation statements)

References 40 publications

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“…Bilateral GPi also has been used in patients with 11 non-Meige dystonia patients and 9 Meige syndrome patients ( 51 ), with significantly improved swallowing and speech scores in BFMDR up to 36 months after the DBS. Bilateral GPi also has been used in primary generalized dystonia and segmental dystonia patients ( 25 – 27 ), and dyskinetic cerebral palsy patients ( 28 ), but no changes or just slightly worsening in speech and swallowing function after DBS compared to baseline were reported.…”

Section: Resultsmentioning

confidence: 99%

“…Hence, it is not certain if targeting STN would have similar benefit, as STN has also been found to be beneficial to dystonia in PD ( 54 ). There is no beneficial effect of GPi DBS on dysphagia in patients with primary generalized dystonia, segmental dystonia, and dyskinesic cerebral palsy patients, and there rarely is worsening effect either ( 25 – 28 ).…”

Section: Discussionmentioning

confidence: 99%

“…DBS targeting the post-subthalamic area and caudal zona incerta (PSA/cZi) was thought to be associated with fewer side effects compared to ventralis intermedius (ViM) or STN (21), including the swallowing function (22)(23)(24). GPi DBS has also been used to treat various dystonia (25)(26)(27)(28), including Meige syndrome (29)(30)(31)(32), and its effect on the swallowing function is also of interest to review compared to that in PD.…”

Section: Introductionmentioning

confidence: 99%

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Effect of Deep Brain Stimulation on Swallowing Function: A Systematic Review

Takahashi

Bloom

et al. 2020

Front. Neurol.

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The effect of deep brain stimulation (DBS) on swallowing function in movement disorders is unclear. Here, we systematically reviewed this topic by searching keywords following PICOS strategy of problem (swallowing or swallow or dysphagia or aspiration) and intervention (deep brain stimulation, or DBS) in the PubMed and Web of Science in English in April 2020, with comparators [subthalamic nucleus (STN), globus pallidus interna (GPi), ventralis intermedius, (ViM), post-subthalamic area, or caudal zona incerta (PSA/cZi); ON/OFF DBS state/settings, ON/OFF medication state, Parkinson's disease (PD), dystonia, tremor], outcomes (swallowing function measures, subjective/objective) and study types (good quality original studies) in mind. We found that STN DBS at usual high-frequency stimulation could have beneficial effect (more so on subjective measures and/or OFF medication), no effect, or detrimental effect (more so on objective measures and/or ON medication) on swallowing function in patients with PD, while low-frequency stimulation (LFS) could have beneficial effect on swallowing function in patients with freezing of gait. GPi DBS could have a beneficial effect (regardless of medication state and outcome measures) or no effect, but no detrimental effect, on swallowing function in PD. GPi DBS also has beneficial effects on swallowing function in majority of the studies on Meige syndrome but not in other diseases with dystonia. PSA/cZi DBS rarely has detrimental effect on swallowing functions in patients with PD or tremor. There is limited information on ViM to assess. Information on swallowing function by DBS remains limited. Well-designed studies and direct comparison of targets are further needed.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Effect of Deep Brain Stimulation on Swallowing Function: A Systematic Review

Takahashi

Bloom

et al. 2020

Front. Neurol.

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“…The effect in DYT-THAP1 is more variable. 56 A detailed systematic literature review on DBS is available elsewhere. 57 Because of the phenotypic overlap, the only way to arrive at a definite conclusion about the underlying genetic cause is genetic testing.…”

Section: Hpcamentioning

confidence: 99%

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

et al. 2021

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A BS TRACT: This comprehensive MDSGene review is devoted to 7 genes -TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCAmutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of~1200 citations. Phenotypic and genotypic data on~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of symptoms across mutation carriers in all 7 genes. Although carriers of TOR1A, THAP1, PRKRA, KMT2B, or HPCA mutations mostly showed childhood and adolescent onset, patients with GNAL and ANO3 mutations often developed first symptoms in adulthood. GNAL and KMT2B mutation carriers frequently have 1 predominant site of onset, that is, the neck (GNAL) or the lower limbs (KMT2B), whereas site of onset in DYT-TOR1A, DYT-THAP1, DYT-ANO3, DYT-PRKRA, and DYT-HPCA was broader. However, in most DYT-THAP1 and DYT-ANO3 patients, dystonia first manifested in the upper half of the body (upper limb, neck, and craniofacial/laryngeal), whereas onset in DYT-TOR1A, DYT-PRKRA and DYT-HPCA was frequently observed in an extremity, including both upper and lower ones. For ANO3, a segmental/multifocal distribution was typical, whereas TOR1A, PRKRA, KMT2B, and HPCA mutation carriers commonly developed generalized dystonia. THAP1 mutation carriers presented with focal, segmental/multifocal, or generalized dystonia in almost equal proportions. GNAL mutation carriers rarely showed generalization. This review provides a comprehensive overview of the current knowledge of hereditary isolated dystonia. The data are also available in an online database (http://www.mdsgene.org), which additionally offers descriptive summary statistics.

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“…There is some evidence that THAP1 dystonia may take longer to improve after GPi DBS than DYT1 or non-DYT1 dystonia but eventually responds to a similar degree albeit with more variable outcomes ( 47 ). 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 ).…”

Section: Genetic Forms Of Dystonia and Response To Gpi-dbsmentioning

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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Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

Cited by 29 publications

References 40 publications

Effect of Deep Brain Stimulation on Swallowing Function: A Systematic Review

Effect of Deep Brain Stimulation on Swallowing Function: A Systematic Review

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

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

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