scholarly journals Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series

2020 ◽  
Vol 267 (12) ◽  
pp. 3624-3631 ◽  
Author(s):  
Ana Luísa de Almeida Marcelino ◽  
Tina Mainka ◽  
Patricia Krause ◽  
Werner Poewe ◽  
Christos Ganos ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Movement Disorder ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Involuntary Movement ◽  
Case Series ◽  
Clinical History ◽  
Long Term Effects ◽  
Deep Brain

AbstractMutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur predominantly during night and interrupt sleep. We present the clinical short- and long-term effects of pallidal deep brain stimulation (DBS) in three patients with a confirmed pathogenic ADCY5 mutation. Patients were implanted with bilateral pallidal DBS at the age of 34, 20 and 13 years. Medical records were reviewed for clinical history. Pre- and postoperative video files were assessed using the “Abnormal Involuntary Movement Scale” (AIMS) as well as the motor part of the “Burke Fahn Marsden Dystonia Rating Scale” (BFMDRS). All patients reported subjective general improvement ranging from 40 to 60%, especially the reduction of nocturnal episodic dyskinesias (80–90%). Objective scales revealed only a mild decrease of involuntary movements in all and reduced dystonia in one patient. DBS-induced effects were sustained up to 13 years after implantation. We demonstrate that treatment with pallidal DBS was effective in reducing nocturnal dyskinetic exacerbations in patients with ADCY5-related movement disorder, which was sustained over the long term.

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

2019 ◽  
Vol 8 (12) ◽  
pp. 2163 ◽  
Author(s):  
Annika Danielsson ◽  
Miryam Carecchio ◽  
Laura Cif ◽  
Anne Koy ◽  
Jean-Pierre Lin ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Clinical Outcome ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Case Series ◽  
Long Term Follow Up ◽  
Pallidal Deep Brain Stimulation ◽  
Deep Brain

Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are lacking. In this retrospective, multicenter follow-up case series of medical records of such patients, the clinical outcome of pallidal deep brain stimulation in DYT-THAP1 dystonia, was evaluated. The Burke Fahn Marsden Dystonia Rating Scale served as an outcome measure. Nine females and 5 males were enrolled, with a median follow-up of 4 years and 10 months after implant. All benefited from surgery: dystonia severity was reduced by a median of 58% (IQR 31-62, p = 0.001) at last follow-up, as assessed by the Burke Fahn Marsden movement subscale. In the majority of individuals, there was no improvement of speech or swallowing, and overall, the effect was greater in the trunk and limbs as compared to the cranio-cervical and orolaryngeal regions. No correlation was found between disease duration before surgery, age at surgery, or preoperative disease burden and the outcome of deep brain stimulation. Device- and therapy-related side-effects were few. Accordingly, pallidal deep brain stimulation should be considered in clinically impairing and pharmaco-resistant DYT-THAP1 dystonia. The method is safe and effective, both short- and long-term.

scholarly journals Deep Brain Stimulation in DYT1 Dystonia

Neurosurgery ◽  
2013 ◽  
Vol 73 (1) ◽  
pp. 86-93 ◽  
Author(s):  
Fedor Panov ◽  
Yakov Gologorsky ◽  
Grayson Connors ◽  
Michele Tagliati ◽  
Joan Miravite ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Symptom Severity ◽  
Rating Scale ◽  
Long Term Results ◽  
Long Term Effects ◽  
Dyt1 Dystonia ◽  
Deep Brain

Abstract BACKGROUND: Globus Pallidus Interna (GPi) deep brain stimulation (DBS) is an effective treatment for DYT1-associated dystonia, but long-term results are lacking. OBJECTIVE: To evaluate the long-term effects of GPi DBS in patients with DYT1 dystonia. METHODS: A retrospective chart review (cohort study) of 47 consecutive DYT1+ patients treated by a single surgical team over a 10-year period and followed for up to 96 months (mean, 46 months) was performed. Symptom severity was quantified with the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor (M) and disability (D) sub-scores. RESULTS: As measured with the BFMDRS (M), symptom severity was reduced to less than 20% of baseline after 2 years of DBS therapy (P = .001). The disability scores were reduced to <30% of baseline (P = .001). Symptomatic improvement was durable throughout available follow-up. Sixty-one percent of patients had discontinued all dystonia-related medications at their last follow-up. Ninety-one percent had discontinued at least 1 class of medication. Infections requiring removal and later reimplantation of hardware occurred in 4 of 47 patients (8.5%). Hardware malfunction including lead fractures occurred in 4 of 47 cases (8.5%). Lead revision to address poor clinical response was performed in 2 of 92 implanted leads (2.2%). CONCLUSION: GPi DBS is an effective therapy for DYT1-associated torsion dystonia. Statistically significant efficacy is maintained for up to 7 years. Neurologic complications are rare, but long-term hardware-related complications can be significant.

scholarly journals Pallidal deep brain stimulation for dystonia: a case series

2013 ◽  
Vol 12 (6) ◽  
pp. 582-587 ◽  
Author(s):  
Melita T. Petrossian ◽  
Lisa R. Paul ◽  
Trisha J. Multhaupt-Buell ◽  
Christine Eckhardt ◽  
Michael T. Hayes ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Early Onset ◽  
Rating Scale ◽  
Case Series ◽  
Long Term Outcome ◽  
Pallidal Deep Brain Stimulation ◽  
Deep Brain

Object Pallidal deep brain stimulation (DBS) is a treatment option for those with early-onset dystonia. However, there are limited data on long-term outcome and treatment complications. The authors report on the short- and long-term effects of pallidal DBS in a cohort of patients with early-onset dystonia. Methods Fourteen consecutive pediatric patients with early-onset dystonia were systematically evaluated and treated. The duration of follow-up ranged from 16 to 84 months. Results There were no immediate postoperative complications. At last follow-up, 12 of the 14 patients displayed a significant decline in the Burke-Fahn-Marsden Dystonia Rating Scale motor subscale score, with an average decrease of 62% ± 8.4%. The most common hardware complication was lead fracture (14.3%). Conclusions These data provide further evidence that DBS is a safe and effective treatment for those with earlyonset dystonia.

scholarly journals Long-Term Effects of Deep Brain Stimulation for Essential Tremor with Subjective and Objective Quantification via Mailed-In Questionnaires

2012 ◽  
Vol 90 (6) ◽  
pp. 394-400 ◽  
Author(s):  
Tatiana H. de Oliveira ◽  
Matthew R. Ginsberg ◽  
Scott Cooper ◽  
Amy Nowacki ◽  
Ali Rezai ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Essential Tremor ◽  
Brain Stimulation ◽  
Long Term Effects ◽  
Objective Quantification ◽  
Deep Brain

Bilateral Deep Brain Stimulation for Cervical Dystonia: Long-term Outcome in a Series of 10 Patients

Neurosurgery ◽  
2010 ◽  
Vol 67 (4) ◽  
pp. 957-963 ◽  
Author(s):  
Francesco Cacciola ◽  
Jibril Osman Farah ◽  
Paul R Eldridge ◽  
Patricia Byrne ◽  
Telekath K Varma
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Cervical Dystonia ◽  
Rating Scale ◽  
Spasmodic Torticollis ◽  
Long Term Outcome ◽  
Stimulation Parameters ◽  
Deep Brain

Abstract BACKGROUND: Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) was shown to be effective in cervical dystonia refractory to medical treatment in several small short-term and 1 long-term follow-up series. Optimal stimulation parameters and their repercussions on the cost/benefit ratio still need to be established. OBJECTIVE: To report our long-term outcome with bilateral GPi deep brain stimulation in cervical dystonia. METHODS: The Toronto Western Spasmodic Torticollis Rating Scale was evaluated in 10 consecutive patients preoperatively and at last follow-up. The relationship of improvement in postural severity and pain was analyzed and stimulation parameters noted and compared with those in a similar series in the literature. RESULTS: The mean (standard deviation) follow-up was 37.6 (16.9) months. Improvement in the total Toronto Western Spasmodic Torticollis Rating Scale score as evaluated at latest follow-up was 68.1% (95% confidence interval: 51.5-84.6). In 4 patients, there was dissociation between posture severity and pain improvement. Prevalently bipolar stimulation settings and high pulse widths and amplitudes led to excellent results at the expense of battery life. CONCLUSION: Improvement in all 3 subscale scores of the Toronto Western Spasmodic Torticollis Rating Scale with bilateral GPi deep brain stimulation seems to be the rule. Refinement of stimulation parameters might have a significant impact on the cost/benefit ratio of the treatment. The dissociation of improvement in posture severity and pain provides tangible evidence of the complex nature of cervical dystonia and offers interesting insight into the complex functional organization of the GPi.

scholarly journals Longitudinal follow-up with VIM thalamic deep brain stimulation for dystonic or essential tremor

Neurology ◽  
2020 ◽  
Vol 94 (10) ◽  
pp. e1073-e1084 ◽  
Author(s):  
Takashi Tsuboi ◽  
Zakia Jabarkheel ◽  
Pamela R. Zeilman ◽  
Matthew J. Barabas ◽  
Kelly D. Foote ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Essential Tremor ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Statistical Significance ◽  
Ventral Intermediate Nucleus ◽  
Deep Brain

ObjectiveTo assess longitudinal tremor outcomes with ventral intermediate nucleus deep brain stimulation (VIM DBS) in patients with dystonic tremor (DT) and to compare with DBS outcomes in essential tremor (ET).MethodsWe retrospectively investigated VIM DBS outcomes for 163 patients followed at our center diagnosed with either DT or ET. The Fahn-Tolosa-Marin tremor rating scale (TRS) was used to assess change in tremor and activities of daily living (ADL) at 6 months, 1 year, 2–3 years, 4–5 years, and ≥6 years after surgery.ResultsTwenty-six patients with DT and 97 patients with ET were analyzed. Compared to preoperative baseline, there were significant improvements in TRS motor up to 4–5 years (52.2%; p = 0.032) but this did not reach statistical significance at ≥6 years (46.0%, p = 0.063) in DT, which was comparable to the outcomes in ET. While the improvements in the upper extremity tremor, head tremor, and axial tremor were also comparable between DT and ET throughout the follow-up, the ADL improvements in DT were lost at 2–3 years follow-up.ConclusionOverall, tremor control with VIM DBS in DT and ET was comparable and remained sustained at long term likely related to intervention at the final common node in the pathologic tremor network. However, the long-term ADL improvements in DT were not sustained, possibly due to inadequate control of concomitant dystonia symptoms. These findings from a large cohort of DT indicate that VIM targeting is reasonable if the tremor is considerably more disabling than the dystonic features.Classification of evidenceThis study provides Class IV evidence that VIM DBS improves tremor in patients with DT or ET.

Long-term effects of anterior pallidal deep brain stimulation for tourette's syndrome

2019 ◽  
Vol 34 (4) ◽  
pp. 586-588 ◽  
Author(s):  
Marie-Laure Welter ◽  
Jean-Luc Houeto ◽  
Yulia Worbe ◽  
Mamadou Hassimiou Diallo ◽  
Andreas Hartmann ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Tourette's Syndrome ◽  
Tourette’S Syndrome ◽  
Long Term Effects ◽  
Pallidal Deep Brain Stimulation ◽  
Deep Brain

Subthalamic nucleus deep brain stimulation in isolated dystonia

Neurology ◽  
2016 ◽  
Vol 88 (1) ◽  
pp. 25-35 ◽  
Author(s):  
Jill L. Ostrem ◽  
Marta San Luciano ◽  
Kristen A. Dodenhoff ◽  
Nathan Ziman ◽  
Leslie C. Markun ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Subthalamic Nucleus ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Spasmodic Torticollis ◽  
Link Type ◽  
Term Tolerability ◽  
Stn Dbs ◽  
Deep Brain

Objective:To report long-term safety and efficacy outcomes of a large cohort of patients with medically refractory isolated dystonia treated with subthalamic nucleus (STN) deep brain stimulation (DBS).Methods:Twenty patients (12 male, 8 female; mean age 49 ± 16.3 years) with medically refractory isolated dystonia were studied (14 were followed for 36 months). The primary endpoints were change in Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor score and Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total score at 36 months compared to preoperative baseline. Multiple secondary outcomes were also assessed (ClinicalTrials.govNCT00773604).Results:Eighteen of 20 patients showed improvement 12 months after STN DBS with sustained benefit persisting for 3 years (n = 14). At 36 months, BFMDRS motor scores improved 70.4% from a mean 17.9 ± 8.5 to 5.3 ± 5.6 (p = 0.0002) and total TWSTRS scores improved 66.6% from a mean 41.0 ± 18.9 to 13.7 ± 17.9 (p = 0.0002). Improvement at 36 months was equivalent to that seen at 6 months. Disability and quality of life measures were also improved. Three hardware-related and 24 stimulation-related nonserious adverse events occurred between years 1 and 3 (including 4 patients with dyskinesia).Conclusions:This study offers support for long-term tolerability and sustained effectiveness of STN DBS in the treatment of severe forms of isolated dystonia.Classification of evidence:This study provides Class IV evidence that STN DBS decreases long-term dystonia severity in patients with medically refractory isolated dystonia.

scholarly journals Deep Brain Stimulation for Obsessive-Compulsive Disorder: Real World Experience Post-FDA-Humanitarian Use Device Approval

2021 ◽  
Vol 12 ◽  
Author(s):  
Lora Kahn ◽  
Brianne Sutton ◽  
Helena R. Winston ◽  
Aviva Abosch ◽  
John A. Thompson ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Obsessive Compulsive Disorder ◽  
Brain Stimulation ◽  
Rating Scales ◽  
Rating Scale ◽  
Case Series ◽  
Autism Spectrum ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Deep Brain

Background: While case series have established the efficacy of deep brain stimulation (DBS) in treating obsessive-compulsive disorder (OCD), it has been our experience that few OCD patients present without comorbidities that affect outcomes associated with DBS treatment. Here we present our experience with DBS therapy for OCD in patients who all have comorbid disease, together with the results of our programming strategies.Methods: For this case series, we assessed five patients who underwent ventral capsule/ventral striatum (VC/VS) DBS for OCD between 2015 and 2019 at the University of Colorado Hospital. Every patient in this cohort exhibited comorbidities, including substance use disorders, eating disorder, tic disorder, and autism spectrum disorder. We conducted an IRB-approved, retrospective study of programming modifications and treatment response over the course of DBS therapy.Results: In addition to patients' subjective reports of improvement, we observed significant improvement in the Yale-Brown Obsessive-Compulsive Scale (44%), the Montgomery-Asberg Depression Rating Scale (53%), the Quality of Life Enjoyment and Satisfaction Questionnaire (27%), and the Hamilton Anxiety Rating scales (34.9%) following DBS. With respect to co-morbid disease, there was a significant improvement in a patient with tic disorder's Total Tic Severity Score (TTSS) (p = 0.005).Conclusions: DBS remains an efficacious tool for the treatment of OCD, even in patients with significant comorbidities in whom DBS has not previously been investigated. Efficacious treatment results not only from the accurate placement of the electrodes by the surgeon but also from programming by the psychiatrist.

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