scholarly journals Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria Abel ◽  
Robert Pfister ◽  
Iman Hussein ◽  
Fahd Alsalloum ◽  
Christina Onyinzo ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Speech Intelligibility ◽  
De Novo ◽  
Therapeutic Option ◽  
Electrical Current ◽  
Positive Outcome ◽  
Corticobulbar Tract ◽  
The Impact ◽  
Deep Brain

Objective: KMT2B-related dystonia is a progressive childhood-onset movement disorder, evolving from lower-limb focal dystonia into generalized dystonia. With increasing age, children frequently show prominent laryngeal or facial dystonia manifesting in dysarthria. Bilateral deep brain stimulation of the globus pallidus internus (GPi-DBS) is reported to be an efficient therapeutic option. Especially improvement of dystonia and regaining of independent mobility is commonly described, but detailed information about the impact of GPi-DBS on dysarthria and speech is scarce.Methods: We report the 16-months outcome after bilateral GPi-DBS in an 8-year-old child with KMT2B-related dystonia caused by a de-novo c.3043C>T (p.Arg1015*) non-sense variant with special emphasis on dysarthria and speech. We compare the outcome of our patient with 59 patients identified through a PubMed literature search.Results: A remarkable improvement of voice, articulation, respiration and prosodic characteristics was seen 16 months after GPi-DBS. The patients' speech intelligibility improved. His speech became much more comprehensible not only for his parents, but also for others. Furthermore, his vocabulary and the possibility to express his feelings and wants expanded considerably.Conclusion: A positive outcome of GPi-DBS on speech and dysarthria is rarely described in the literature. This might be due to disease progression, non-effectiveness of DBS or due to inadvertent spreading of the electrical current to the corticobulbar tract causing stimulation induced dysarthria. This highlights the importance of optimal lead placement, the possibility of horizontal steering of the electrical field by applying directional stimulation with segmented leads as well as the use of the lowest possible effective stimulation intensity.

scholarly journals Changes in Vowel Articulation with Subthalamic Nucleus Deep Brain Stimulation in Dysarthric Speakers with Parkinson’s Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Vincent Martel Sauvageau ◽  
Joël Macoir ◽  
Mélanie Langlois ◽  
Michel Prud’Homme ◽  
Léo Cantin ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Deep Brain Stimulation ◽  
Subthalamic Nucleus ◽  
Brain Stimulation ◽  
Speech Intelligibility ◽  
Fine Motor ◽  
The Impact ◽  
Stn Dbs ◽  
Deep Brain

Purpose. To investigate changes in vowel articulation with the electrical deep brain stimulation (DBS) of the subthalamic nucleus (STN) in dysarthric speakers with Parkinson’s disease (PD).Methods. Eight Quebec-French speakers diagnosed with idiopathic PD who had undergone STN DBS were evaluated ON-stimulation and OFF-stimulation (1 hour after DBS was turned off). Vowel articulation was compared ON-simulation versus OFF-stimulation using acoustic vowel space and formant centralization ratio, calculated with the first (F1) and second formant (F2) of the vowels /i/, /u/, and /a/. The impact of the preceding consonant context on articulation, which represents a measure of coarticulation, was also analyzed as a function of the stimulation state.Results. Maximum vowel articulation increased during ON-stimulation. Analyses also indicate that vowel articulation was modulated by the consonant context but this relationship did not change with STN DBS.Conclusions. Results suggest that STN DBS may improve articulation in dysarthric speakers with PD, in terms of range of movement. Optimization of the electrical parameters for each patient is important and may lead to improvement in speech fine motor control. However, the impact on overall speech intelligibility may still be small. Clinical considerations are discussed and new research avenues are suggested.Corrigendum to “Changes in Vowel Articulation with Subthalamic Nucleus Deep Brain Stimulation in Dysarthric Speakers with Parkinson’s Disease”

scholarly journals Deep Brain Stimulation (DBS) in the treatment of primary dystonia of the pediatric population: a review

2021 ◽  
Author(s):  
Gabriela Coutinho Amorim Carneiro ◽  
Deborah Calado Coelho ◽  
Suzana Bastos Batista
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Therapeutic Option ◽  
Pediatric Population ◽  
Current Evidence ◽  
Dyt1 Gene ◽  
Primary Dystonia ◽  
Drug Treatments ◽  
The Impact ◽  
Deep Brain

Background: Deep Brain Stimulation (DBS) is a neurosurgical technique widely used for the treatment of several pathologies, such as Parkinson’s Disease and dystonias. Dystonias, primary or secondary, have several determining factors, among which we can mention genetic mutations, that, generally, do not respond satisfactorily to drug treatments. The difficult control of dystonias makes its management complex, since they are progressive, and, as a consequence, surgical options are often necessary. Objectives: To identify the impact of the use of DBS on the prognosis of children with primary dystonia. Methods: The present work consists of an integrative literature review, in which a careful search was carried out from databases available on the internet, such as Google Scholar, MedScape, Scielo and PubMed, using the following keywords combined in pairs: deep brain stimulation, pediatrics and primary dystonia. The research was carried out in English and Portuguese and, at the end, 10 articles published between the years 2017 and 2021 were selected. Results: Through analysis, it was observed that DBS proved to be an excellent therapy, with good results, especially for patients with primary dystonia, who were more susceptible to showing improvements in motor symptoms. Of these patients, those who have a mutation in the DYT1 gene seemed to respond better when it comes to disabling symptoms, as well as those who have known genetic etiologies. Conclusions: Although there is a limited number of studies related to the pediatric population, the use of DBS for dystonias, especially primary ones, seems to be an excellent therapeutic option for patients refractory to drug therapy. In any case, studies aimed at this group are still necessary in order to enrich and support the current evidence.

Effects of deep brain stimulation on sleep-wake disturbances in patients with Parkinson's disease: A narrative review

2021 ◽  
Vol 19 ◽  
Author(s):  
Yu Jin Jung ◽  
Han-Joon Kim ◽  
Sun Ha Paek ◽  
Beomseok Jeon
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Early Stage ◽  
Motor Symptoms ◽  
Specific Effects ◽  
The Impact ◽  
Non Motor Symptoms ◽  
Deep Brain

: Sleep-wake disturbances (SWD) are one of the most common non-motor symptoms in Parkinson's disease (PD) and can appear in the early stage even before the onset of motor symptoms. Deep brain stimulation (DBS) is an established treatment for the motor symptoms in patients with advanced PD. However, the effect of DBS on SWD and its specific mechanisms are not widely understood and remain controversial. In addition to the circuit-mediated direct effect, DBS may improve SWD by an indirect effect such as the resolution of nocturnal motor complications and a reduction of dopaminergic medication. Here, the authors review the recent literatures regarding the impact of DBS on SWD in patients with PD. Furthermore, the selection of the DBS targets and the specific effects of applying DBS to each target on SWD in PD are also discussed.

Avoiding the ventricle: a simple step to improve accuracy of anatomical targeting during deep brain stimulation

2009 ◽  
Vol 110 (6) ◽  
pp. 1283-1290 ◽  
Author(s):  
Ludvic Zrinzo ◽  
Arjen L. J. van Hulzen ◽  
Alessandra A. Gorgulho ◽  
Patricia Limousin ◽  
Michiel J. Staal ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Electrode Placement ◽  
Neurosurgical Procedures ◽  
Electrode Implantation ◽  
Clinical Observations ◽  
Simple Step ◽  
The Mean ◽  
The Impact ◽  
Deep Brain

Object The authors examined the accuracy of anatomical targeting during electrode implantation for deep brain stimulation in functional neurosurgical procedures. Special attention was focused on the impact that ventricular involvement of the electrode trajectory had on targeting accuracy. Methods The targeting error during electrode placement was assessed in 162 electrodes implanted in 109 patients at 2 centers. The targeting error was calculated as the shortest distance from the intended stereotactic coordinates to the final electrode trajectory as defined on postoperative stereotactic imaging. The trajectory of these electrodes in relation to the lateral ventricles was also analyzed on postoperative images. Results The trajectory of 68 electrodes involved the ventricle. The targeting error for all electrodes was calculated: the mean ± SD and the 95% CI of the mean was 1.5 ± 1.0 and 0.1 mm, respectively. The same calculations for targeting error for electrode trajectories that did not involve the ventricle were 1.2 ± 0.7 and 0.1 mm. A significantly larger targeting error was seen in trajectories that involved the ventricle (1.9 ± 1.1 and 0.3 mm; p < 0.001). Thirty electrodes (19%) required multiple passes before final electrode implantation on the basis of physiological and/or clinical observations. There was a significant association between an increased requirement for multiple brain passes and ventricular involvement in the trajectory (p < 0.01). Conclusions Planning an electrode trajectory that avoids the ventricles is a simple precaution that significantly improves the accuracy of anatomical targeting during electrode placement for deep brain stimulation. Avoidance of the ventricles appears to reduce the need for multiple passes through the brain to reach the desired target as defined by clinical and physiological observations.

An Update of the Impact of Deep Brain Stimulation on Non Motor Symptoms in Parkinson's Disease

2014 ◽  
Vol 4 (2) ◽  
pp. 289-300 ◽  
Author(s):  
Lisa Klingelhoefer ◽  
Michael Samuel ◽  
K. Ray Chaudhuri ◽  
Keyoumars Ashkan
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Motor Symptoms ◽  
The Impact ◽  
Non Motor Symptoms ◽  
Deep Brain

scholarly journals Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis

2019 ◽  
Vol 11 (2) ◽  
pp. 199-204
Author(s):  
Alby Richard ◽  
Joey Hsu ◽  
Patricia Baum ◽  
Ron Alterman ◽  
David K. Simon
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Early Adulthood ◽  
Gene Mutations ◽  
Gene Encoding ◽  
Laboratory Findings ◽  
Current State ◽  
Monopolar Stimulation ◽  
The Impact ◽  
Deep Brain

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease due to mutation of the VPS13A gene encoding the protein chorein. ChAc is a slowly progressive disorder that typically presents in early adulthood, and whose clinical features include chorea and dystonia with involuntary lip, cheek, and tongue biting. Some patients also have seizures. Treatment for ChAc is symptomatic. A small number of ChAc patients have been treated with bilateral deep brain stimulation (DBS) of the globus pallidus interna (GPi), and we now present an additional case. Patient chart, functional measures, and laboratory findings were reviewed from the time of ChAc diagnosis until 6 months after DBS surgery. Here, we present a case of ChAc in a 31-year-old male positive for VPS13A gene mutations who presented with chorea, tongue biting, dysarthria, weight loss, and mild cognitive dysfunction. DBS using monopolar stimulation with placement slightly lateral to the GPi was associated with significant improvement in chorea and dysarthria. This case adds to the current state of knowledge regarding the efficacy and safety of bilateral GPi-DBS for symptomatic control of drug-resistant hyperkinetic movements seen in ChAc. Controlled trials are needed to better assess the impact and ideal target of DBS in ChAc.

The Impact of Microelectrode Recording on Lead Location in Deep Brain Stimulation for the Treatment of Movement Disorders

2019 ◽  
Vol 132 ◽  
pp. e487-e495
Author(s):  
Ryan B. Kochanski ◽  
Sander Bus ◽  
Bledi Brahimaj ◽  
Alireza Borghei ◽  
Kristen L. Kraimer ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Movement Disorders ◽  
Microelectrode Recording ◽  
Lead Location ◽  
The Impact ◽  
Deep Brain

scholarly journals Intestinal Levodopa/Carbidopa Infusion as a Therapeutic Option for Unresponsive Freezing of Gait after Deep Brain Stimulation in Parkinson’s Disease

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Belén González-Herrero ◽  
Serge Jauma-Classen ◽  
Roser Gómez-Llopico ◽  
Gerard Plans ◽  
Matilde Calopa
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Deep Brain Stimulation ◽  
Subthalamic Nucleus ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Therapeutic Option ◽  
Freezing Of Gait ◽  
Disease Rating ◽  
Deep Brain

Background. Treatment of freezing of gait (FOG) is always challenging because of its unpredictable nature and multifactorial physiopathology. Intestinal levodopa infusion has been proposed in recent years as a valuable option for its improvement. FOG in Parkinson’s disease (PD) can appear after deep brain stimulation in patients who never had gait symptoms. Objective. To study the effects of intestinal levodopa/carbidopa infusion in unresponsive-FOG that appears in PD patients treated with subthalamic nucleus deep brain stimulation. Methods. We retrospectively collected and analyzed demographic, clinical, and therapeutic data from five PD patients treated with subthalamic nucleus stimulation who developed unresponsive-FOG and received intestinal levodopa/carbidopa infusion as an alternative therapy. FOG was measured based on scores in item 14 of the Unified Parkinson’s Disease Rating Scale before and after intestinal levodopa infusion. Results. Administration of intestinal levodopa caused improvement of FOG in the “ON” state in four patients (80%) by 2 or more points in item 14 of the Unified Parkinson’s Disease Rating Scale. The improvement was maintained for at least 12 months. Conclusions. Intestinal levodopa infusion may be a valuable therapeutic option for unresponsive-FOG developed after subthalamic nucleus deep brain stimulation.

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