Journal of Movement Disorders

Letter to the editor

Deep Brain Stimulation in Advanced Parkinson’s Disease: An Uncommon Case of Allergic Encephalitis: Jyun-Yi Chen, Yen-Chung Chen, Shey-Lin Wu; Received November 16, 2023 Accepted April 12, 2024 Published online April 15, 2024; DOI: https://doi.org/10.14802/jmd.23237 [Accepted]

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Review Article

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data: Weibin He, Chenhui Li, Hongjuan Dong, Lingmin Shao, Bo Yin, Dianyou Li, Liguo Ye, Ping Hu, Chencheng Zhang, Wei Yi; J Mov Disord. 2022;15(3):197-205. Published online July 26, 2022; DOI: https://doi.org/10.14802/jmd.22003

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Abstract PDF Supplementary Material: A significant proportion of patients with chorea-acanthocytosis (ChAc) fail to respond to standard therapies. Recent evidence suggests that globus pallidus internus (GPi) deep brain stimulation (DBS) is a promising treatment option; however, reports are few and limited by sample sizes. We conducted a systematic literature review to evaluate the clinical outcome of GPi-DBS for ChAc. PubMed, Embase, and Cochrane Library databases were searched for relevant articles published before August 2021. The improvement of multiple motor and nonmotor symptoms was qualitatively presented. Improvements in the Unified Huntington’s Disease Rating Scale motor score (UHDRS-MS) were also analyzed during different follow-up periods. A multivariate linear regression analysis was conducted to identify potential predictors of clinical outcomes. Twenty articles, including 27 patients, were eligible. Ninety-six percent of patients with oromandibular dystonia reported significant improvement. GPi-DBS significantly improved the UHDRS-motor score at < 6 months (p < 0.001) and ≥ 6 months (p < 0.001). The UHDRS-motor score improvement rate was over 25% in 75% (15/20 cases) of patients at long-term follow-up (≥ 6 months). The multiple linear regression analysis showed that sex, age at onset, course of disease, and preoperative movement score had no linear relationship with motor improvement at long-term follow-up (p > 0.05). GPi-DBS is an effective and safe treatment in most patients with ChAc, but no reliable predictor of efficacy has been found. Oromandibular dystonia-dominant patients might be the best candidates for GPi-DBS.

Original Articles

Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia: Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon; J Mov Disord. 2022;15(3):241-248. Published online July 26, 2022; DOI: https://doi.org/10.14802/jmd.22002

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Objective
To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN).
Methods
We reviewed the records of patients with genetically confirmed PKAN who received bilateral GPi-DBS for refractory dystonia and were clinically followed up for at least 2 years postoperatively at two centers in Korea. Pre- and postoperative Burke– Fahn–Marsden Dystonia Rating Scale motor subscale (BFMDRS-M) scores, disability subscale (BFMDRS-D) scores, and qualitative clinical information were prospectively collected. Descriptive analysis was performed for BFMDRS-M scores, BFMDRSD scores, and the orofacial, axial, and limb subscores of the BFMDRS-M at 6–12, 24–36, and 60–72 months postoperatively.
Results
Five classic-type, four atypical-type, and one unknown-type PKAN cases were identified. The mean preoperative BFMDRS-M score was 92.1 for the classic type and 38.5 for the atypical or unknown type, with a mean BFMDRS follow-up of 50.7 months and a clinical follow-up of 69.0 months. The mean improvements in BFMDRS-M score were 11.3%, 41.3%, and 30.5% at 6–12, 24–36, and 60–72 months, respectively. In four patients with full regular evaluations until 60–72 months, improvements in the orofacial, axial, and limb subscores persisted, but the disability scores worsened from 24–36 months post-operation compared to the baseline, mainly owing to the aggravation of eating and feeding disabilities.
Conclusion
The benefits of GPi-DBS on dystonia may persist for more than 5 years in PKAN. The effects on patients’ subjective disability may have a shorter duration despite improvements in dystonia owing to the complex manifestations of PKAN.

Citations

Citations to this article as recorded by

Deep Brain Stimulation for Refractory Status Dystonicus in Children: Multicenter Case Series and Systematic Review
Lindsey M. Vogt, Han Yan, Brendan Santyr, Sara Breitbart, Melanie Anderson, Jürgen Germann, Karlo J. Lizarraga, Angela L. Hewitt, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky
Annals of Neurology.2024; 95(1): 156. CrossRef
Surgical treatment of movement disorders in neurometabolic conditions
Alonso Zea Vera, Andrea L. Gropman
Frontiers in Neurology.2023;[Epub] CrossRef

Development of Clinical Milestones in Parkinson’s Disease After Bilateral Subthalamic Deep Brain Stimulation: Jed Noel A. Ong, Jung Hwan Shin, Seungho Jeon, Chan Young Lee, Han-Joon Kim, Sun Ha Paek, Beomseok Jeon; J Mov Disord. 2022;15(2):124-131. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21106

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Abstract PDF Supplementary Material

Objective
Deep brain stimulation of the subthalamic nucleus (STN-DBS) in Parkinson’s disease (PD) patients does not halt disease progression, as these patients will progress and develop disabling non-levodopa responsive symptoms. These features may act as milestones that represent the overall functionality of patients after DBS. The objective of this study was to investigate the development of clinical milestones in advanced PD patients who underwent bilateral STN-DBS.
Methods
The study evaluated PD patients who underwent STN-DBS at baseline up to their last follow-up using the Unified Parkinson’s Disease Rating Scale and Hoehn and Yahr scale. The symptoms of hallucinations, dysarthria, dysphagia, frequent falls, difficulty walking, cognitive impairment and the loss of autonomy were chosen as the clinical milestones.
Results
A total of 106 patients with a mean age of 47.21 ± 10.52 years at disease onset, a mean age of 58.72 ± 8.74 years at surgery and a mean disease duration of 11.51 ± 4.4 years before surgery were included. Initial improvement of motor symptoms was seen after the surgery with the appearance of clinical milestones over time. Using the moderately disabling criteria, 81 patients (76.41%) developed at least one clinical milestone, while 48 patients (45.28%) developed a milestone when using the severely disabling criteria.
Conclusion
STN-DBS has a limited effect on axial and nonmotor symptoms of the PD patients, in contrast to the effect on motor symptoms. These symptoms may serve as clinical milestones that can convey the status of PD patients and its impact on the patients and their caregivers. Therefore, advanced PD patients, even those treated with bilateral STN-DBS, will still require assistance and cannot live independently in the long run.

Citations

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Unveiling the Impact of Outpatient Physiotherapy on Specific Motor Symptoms in Parkinson’s Disease: A Prospective Cohort Study
Yuta Terasawa, Koki Ikuno, Shintaro Fujii, Yuki Nishi, Emi Tanizawa, Sachio Nabeshima, Yohei Okada
Brain & Neurorehabilitation.2023;[Epub] CrossRef

Case Report

Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder: Joseph S. Domino, Rose Gelineau-Morel, Christian Kaufman; J Mov Disord. 2022;15(1):62-65. Published online November 3, 2021; DOI: https://doi.org/10.14802/jmd.21005

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Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment. This study represents only the third case of DBS for CS-associated movement disorder and the first in which both proposed targets had devices implanted, allowing for direct comparison. A case of DBS for CS-associated movement disorder is presented. Previous literature documents two cases with one targeting the ventral intermediate nucleus of the thalamus (VIM) and the other targeting the globus pallidus interna (GPi). Our patient underwent stimulation of GPi nuclei followed by repositioning to VIM nuclei with improved symptom control using VIM stimulation. In all cases, there was a significant clinical benefit without off-target effects. CS-associated movement disorder exhibits phenotypic variability for which DBS is a viable treatment. Target selection should be driven by clinical phenotype.

Citations

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Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks
Özge Berna Gültekin‐Zaim, Gül Yalçın‐Çakmaklı, Ayşe İlksen Çolpak, Pelin Özlem Şimşek‐Kiper, Gülen Eda Utine, Bülent Elibol
Movement Disorders Clinical Practice.2023;[Epub] CrossRef

Original Article

The Queensland Parkinson’s Project: An Overview of 20 Years of Mortality from Parkinson’s Disease: Peter Cornelis Poortvliet, Alexander Gluch, Peter A. Silburn, George D. Mellick; J Mov Disord. 2021;14(1):34-41. Published online December 7, 2020; DOI: https://doi.org/10.14802/jmd.20034

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Objective
The consensus is that life expectancy for individuals with Parkinson’s disease (PD) is reduced, but estimations vary. We aimed to provide an overview of 20 years of mortality and risk factor data from the Queensland Parkinson’s Project.
Methods
The analysis included 1,334 PD and 1,127 control participants. Preliminary analysis of baseline characteristics (sex, age at onset, family history, smoking status, pesticide exposure, depression and neurosurgery) was conducted, and Kaplan–Meier curves were generated for each potential risk factor. Standardized mortality ratios (SMRs) were calculated comparing this cohort to the general Australian population. Cox proportional hazards regression modeling was used to analyze potential predictors of mortality.
Results
In total, 625 (46.8%) PD and 237 (21.0%) control participants were deceased. Mean disease duration until death was 15.3 ± 7.84 years. Average ages at death were 78.0 ± 7.4 years and 80.4 ± 8.4 years for the deceased PD and control participants, respectively. Mortality was significantly increased for PD in general {SMR = 2.75 [95% confidence interval (CI): 2.53–2.96]; p = 0.001}. SMRs were slightly higher for women and those with an age of onset before 60 years. Multivariate analysis showed that deep brain stimulation (DBS) treatment was associated with lower mortality [hazard ratio (HR) = 0.76; 95% CI: 0.59–0.98], while occasional pesticide exposure increased mortality risk (HR = 1.48; 95% CI: 1.17–1.88). Family history of PD, smoking and depression were not independent predictors of mortality.
Conclusion
Mortality in PD is increased. Sex, age at onset and occasional pesticide exposure were independent determinants of increased mortality, while DBS treatment was associated with reduced mortality.

Citations

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Update: Descriptive epidemiology of Parkinson disease
Nikolas Grotewold, Roger L. Albin
Parkinsonism & Related Disorders.2024; 120: 106000. CrossRef
Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism
E. Mutez, M. Swiderski, D. Devos, C. Moreau, G. Baille, A. Degardin, G. Ryckewaert, N. Carriere, A. Kreisler, C. Simonin, N. Rouaix, M. Tir, P. Krystkowiak, N. Ramdane, M. Génin, B. Sablonnière, L. Defebvre, V. Huin
European Journal of Neurology.2023; 30(6): 1667. CrossRef
Different pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson’s disease
Amica C. Müller-Nedebock, Marieke C. J. Dekker, Matthew J. Farrer, Nobutaka Hattori, Shen-Yang Lim, George D. Mellick, Irena Rektorová, Mohamed Salama, Artur F. S. Schuh, A. Jon Stoessl, Carolyn M. Sue, Ai Huey Tan, Rene L. Vidal, Christine Klein, Soraya
npj Parkinson's Disease.2023;[Epub] CrossRef
Effects of omega-3 polyunsaturated fatty acids on the levels of pro- and anti-inflammatory cytokines and lipid profile in patients with Parkinson's disease
Sara Mohammadi, Mirmohsen Sharifi Bonab, Mahdyieh Hamed Behzad, Bahram Pourghassem Gargari
Nutrition Clinique et Métabolisme.2023; 37(3): 181. CrossRef
The elephant in the room: critical reflections on mortality rates among individuals with Parkinson’s disease
Lisanne J. Dommershuijsen, Sirwan K. L. Darweesh, Yoav Ben-Shlomo, Benzi M. Kluger, Bastiaan R. Bloem
npj Parkinson's Disease.2023;[Epub] CrossRef
Mortality of Parkinson’s disease in Italy from 1980 to 2015
Monica Ulivelli, Daiana Bezzini, Lucia Kundisova, Ilaria Grazi, Mario Alberto Battaglia, Nicola Nante, Simone Rossi
Neurological Sciences.2022; 43(6): 3603. CrossRef
A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population
Brage Brakedal, Lilah Toker, Kristoffer Haugarvoll, Charalampos Tzoulis
npj Parkinson's Disease.2022;[Epub] CrossRef
Australian Parkinson’s Genetics Study (APGS): pilot (n=1532)
Svetlana Bivol, George D Mellick, Jacob Gratten, Richard Parker, Aoibhe Mulcahy, Philip E Mosley, Peter C Poortvliet, Adrian I Campos, Brittany L Mitchell, Luis M Garcia-Marin, Simone Cross, Mary Ferguson, Penelope A Lind, Danuta Z Loesch, Peter M Vissche
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Therapeutic targeting of mitophagy in Parkinson's disease
Shashank Masaldan, Sylvie Callegari, Grant Dewson
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Ioannis C. Lampropoulos, Foteini Malli, Olga Sinani, Konstantinos I. Gourgoulianis, Georgia Xiromerisiou
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Effects of physician visit frequency for Parkinson’s disease treatment on mortality, hospitalization, and costs: a retrospective cohort study
Takako Fujita, Akira Babazono, Sung-a Kim, Aziz Jamal, Yunfei Li
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Brief communications

Knowledge, Attitude, and Perceptions about Deep Brain Stimulation for Parkinson’s Disease: Observations from a Single Indian Center: Shweta Prasad, Amitabh Bhattacharya, Lulup Kumar Sahoo, Dhruv Batra, Nitish Kamble, Ravi Yadav, Dwarakanath Srinivas, Pramod Kumar Pal; J Mov Disord. 2021;14(1):60-64. Published online September 21, 2020; DOI: https://doi.org/10.14802/jmd.20066

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Abstract PDF Supplementary Material

Objective
Willingness to undergo deep brain stimulation (DBS) among patients with Parkinson’s disease (PD) and their overall satisfaction with the procedure is highly dependent upon expectations, which are based on the core concepts of knowledge, attitude and perceptions. The present study aims to evaluate these factors in patients and caregivers with PD from a single tertiary care hospital in India.
Methods
A structured questionnaire designed to assess the knowledge, attitude and perceptions about DBS in PD was administered to 400 patients with PD and their caregivers.
Results
A very small proportion of patients and caregivers were aware of DBS. Even those who claimed to be aware of DBS were inadequately informed and had incorrect knowledge, which led to wrong attitudes and perceptions.
Conclusion
There are very significant knowledge gaps and misconceptions regarding DBS among patients with PD and caregivers. Adequate and appropriate education is necessary to clarify these misconceptions to avoid the development of unrealistic expectations and poor satisfaction.

Citations

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Know DBS: patient perceptions and knowledge of deep brain stimulation in Parkinson’s disease
Meagen Salinas, Umar Yazdani, Austin Oblack, Bradley McDaniels, Nida Ahmed, Bilal Haque, Nader Pouratian, Shilpa Chitnis
Therapeutic Advances in Neurological Disorders.2024;[Epub] CrossRef
Assessment of Knowledge and Perception Regarding Deep Brain Stimulation Among Medical Students in Saudi Arabia
Sarah S Aldharman, Fadi A Munhish, Haila A Alabssi, Maryam A Alamer, Fay A Althunayyan, Majidah H Halawi, Shireen H Elfaham, Taghreed A Alsinani, Saud A Alnaaim
Cureus.2023;[Epub] CrossRef
Deep Brain Stimulation for Parkinson's Disease‐the Developing World's Perspective
Khushboo Patel, Divya Kalikavil Puthanveedu, Asish Vijayaraghavan, Krishnakumar Kesavapisharady, Gangadhara Sarma, Sankara P. Sarma, Syam Krishnan
Movement Disorders Clinical Practice.2023; 10(12): 1750. CrossRef
How Parkinson’s patients in the USA perceive deep brain stimulation in the 21st century: Results of a nationwide survey
Daniel Alfonso, Laura Y. Cabrera, Christos Sidiropoulos, Fei Wang, Harini Sarva
Journal of Clinical Neuroscience.2022; 95: 20. CrossRef
Caregiver Burden in Partners of Parkinsonian Patients with Deep Brain Stimulation
Eileen Gülke, Monika Pötter-Nerger
Brain Sciences.2022; 12(2): 238. CrossRef

Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis: Vikram Venkappayya Holla, Koti Neeraja, Bharath Kumar Surisetti, Shweta Prasad, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2020;13(3):218-222. Published online August 31, 2020; DOI: https://doi.org/10.14802/jmd.20073

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Abstract PDF

Objective
The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We report our experience with the management of acute worsening of symptoms due to battery exhaustion in 3 patients with DBS.
Methods
Patients with DBS for movement disorders who visited the emergency room due to battery exhaustion during the nationwide lockdown from April to May 2020 were included.
Results
Two patients with subthalamic nucleus-DBS for Parkinson’s disease (PD) and one with globus pallidus interna-DBS for generalized dystonia presented with acute worsening of symptoms due to battery exhaustion. Urgent battery replacement was performed in both patients with PD. The patient with generalized dystonia was managed with medication adjustment as he chose to defer battery replacement.
Conclusion
DBS battery replacement can be an emergency. Decisions regarding DBS battery replacement should be individualized during this COVID-19 pandemic.

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Effects of COVID-19 on Synaptic and Neuronal Degeneration
Mohammed S. Alqahtani, Mohamed Abbas, Mohammad Y. Alshahrani, Khulud Alabdullh, Amjad Alqarni, Fawaz F. Alqahtani, Layal K. Jambi, Adnan Alkhayat
Brain Sciences.2023; 13(1): 131. CrossRef
Needs and Perceptions of Patients With Dystonia During the COVID-19 Pandemic: A Qualitative Framework Analysis of Survey Responses From Italy
Vittorio Rispoli, Matías Eduardo Díaz Crescitelli, Francesco Cavallieri, Francesca Antonelli, Stefano Meletti, Luca Ghirotto, Franco Valzania
Frontiers in Neurology.2022;[Epub] CrossRef
Parkinsonism hyperpyraexia syndrome in Parkinson's disease patients undergoing deep brain stimulation: An indirect consequence of COVID-19 lockdowns
Onanong Phokaewvarangkul, Sasivimol Virameteekul, Roongroj Bhidayasiri
Parkinsonism & Related Disorders.2021; 87: 39. CrossRef
An Investigation Into Miniaturised Closed-Loop DBS Devices
Dean M. Corva, Scott D. Adams, Kevin E. Bennet, Parastoo Hashemi, Michael Berk, Abbas Z. Kouzani
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Effects of COVID-19 Lockdown on Movement Disorders Patients With Deep Brain Stimulation: A Multicenter Survey
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Frontiers in Neurology.2020;[Epub] CrossRef

Review Article

Update on Current Technologies for Deep Brain Stimulation in Parkinson’s Disease: Michelle Paff, Aaron Loh, Can Sarica, Andres M. Lozano, Alfonso Fasano; J Mov Disord. 2020;13(3):185-198. Published online August 31, 2020; DOI: https://doi.org/10.14802/jmd.20052

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Abstract PDF

Deep brain stimulation (DBS) is becoming increasingly central in the treatment of patients with Parkinson’s disease and other movement disorders. Recent developments in DBS lead and implantable pulse generator design provide increased flexibility for programming, potentially improving the therapeutic benefit of stimulation. Directional DBS leads may increase the therapeutic window of stimulation by providing a means of avoiding current spread to structures that might give rise to stimulation-related side effects. Similarly, control of current to individual contacts on a DBS lead allows for shaping of the electric field produced between multiple active contacts. The following review aims to describe the recent developments in DBS system technology and the features of each commercially available DBS system. The advantages of each system are reviewed, and general considerations for choosing the most appropriate system are discussed.

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Original Article

Long-term Effects of Bilateral Subthalamic Deep Brain Stimulation on Postural Instability and Gait Difficulty in Patients with Parkinson’s Disease: Hae-Won Shin, Mi Sun Kim, Sung Reul Kim, Sang Ryong Jeon, Sun Ju Chung; J Mov Disord. 2020;13(2):127-132. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.19081

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Abstract PDF

Objective
The long-term effects of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) on postural instability and gait difficulty (PIGD) in patients with Parkinson’s disease (PD) remain unclear. In this study, we aimed to evaluate the longterm effects of STN-DBS surgery on PIGD symptoms in patients with advanced-stage PD. Methods This study included 49 consecutively included patients with PD who underwent bilateral STN-DBS. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and subscores for PIGD were assessed at baseline and at 1, 3, and 5 years postoperatively. The PIGD subscore was divided into PIGD-motor and PIGD-activities of daily living (ADL) scores according to parts III and II of the UPDRS, respectively. Results The PIGD-motor and PIGD-ADL scores at the “medication-off” state improved at 3 and 5 years, respectively. Overall, the UPDRS III and II scores at “medication-off” improved at 5 years. The UPDRS IV score also significantly improved and the levodopa equivalent daily dosage decreased at all follow-ups. Finally, the PIGD-motor score at baseline was able to predict long-term improvement in the PIGD-motor score at the 5-year follow-up. Conclusion The STN-DBS has both short- and long-term effects on PIGD, as well as overall motor function, in patients with advanced PD. The degree of PIGD at the preoperative evaluation can be used to predict long-term outcomes after STN-DBS surgery.

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Effects of subthalamic nucleus deep brain stimulation using different frequency programming paradigms on axial symptoms in advanced Parkinson’s disease
Yifeng Cheng, Guangrui Zhao, Lei Chen, Deqiu Cui, Chunjuan Wang, Keke Feng, Shaoya Yin
Acta Neurochirurgica.2024;[Epub] CrossRef
Long-term motor outcomes of deep brain stimulation of the globus pallidus interna in Parkinson's disease patients: Five-year follow-up
Yun Su Hwang, Sungyang Jo, Seung Hyun Lee, Nayoung Kim, Mi-Sun Kim, Sang Ryong Jeon, Sun Ju Chung
Journal of the Neurological Sciences.2023; 444: 120484. CrossRef
Smartwatch gait coordination index: New measure for human gait utilizing smartwatch sensor
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WITHDRAWN: Laterality and frequency settings of subthalamic nucleus DBS for Parkinson's disease: A systematic review and network meta-analysis
Rajiv Dharnipragada, Lalitha S. Denduluri, Anant Naik, Mario Bertogliat, Matthew Awad, Salman Ikramuddin, Michael C. Park
Parkinsonism & Related Disorders.2023; : 105455. CrossRef
Frequency settings of subthalamic nucleus DBS for Parkinson's disease: A systematic review and network meta-analysis
Rajiv Dharnipragada, Lalitha S. Denduluri, Anant Naik, Mario Bertogliat, Matthew Awad, Salman Ikramuddin, Michael C. Park
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Unlocking potential: low frequency subthalamic nucleus stimulation enhances executive function in Parkinson’s disease patients with postural instability/gait disturbance
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Case Report

Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia: Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn; J Mov Disord. 2020;13(2):154-158. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19087

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Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

Citations

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The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
Journal of the Neurological Sciences.2024; 459: 122970. CrossRef
GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
Frontiers in Neurology.2023;[Epub] CrossRef
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
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GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis
Roopa Rajan, Kanwaljeet Garg, Arti Saini, Divya M. Radhakrishnan, Miryam Carecchio, Binukumar BK, Manmohan Singh, Achal K. Srivastava
Movement Disorders Clinical Practice.2022; 9(1): 31. CrossRef
Dystonic Tremor in Adult-onset DYT-KMT2B
Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi
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Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn D Applegate,
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Brief communications

Rescue Levodopa/Carbidopa Intestinal Gel for Secondary Deep Brain Stimulation Failure: Juan Miguel Pilar Bautista, Genko Oyama, Maierdanjiang Nuermaimaiti, Satoko Sekimoto, Fuyuko Sasaki, Taku Hatano, Kenya Nishioka, Masanobu Ito, Atsushi Umemura, Yuji Ishibashi, Yasushi Shimo, Nobutaka Hattori; J Mov Disord. 2020;13(1):57-61. Published online January 31, 2020; DOI: https://doi.org/10.14802/jmd.19051

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Abstract PDF

Objective
The long-term efficacy of deep brain stimulation (DBS) for motor fluctuations in advanced Parkinson’s disease (PD) has been well established; however, motor fluctuations may recur over time despite multiple adjustments of DBS settings and medications.
Methods
We conducted a retrospective chart review of three patients for whom levodopa-carbidopa intestinal gel (LCIG) was additionally administered as a rescue therapy for secondary DBS failure due to the recurrence of motor fluctuations.
Results
The three patients had advanced PD with a disease duration of 14–19 years, and had undergone DBS for motor fluctuations refractory to standard medical management. LCIG was administered to the patients because of symptom recurrence years after DBS and provided complementary effects in all patients.
Conclusion
The cases presented here show that rescue LCIG therapy may be a complementary treatment option for patients with post-DBS advanced PD who have a recurrence of troublesome motor complications.

Citations

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Nationwide Retrospective Analysis of Combinations of Advanced Therapies in Patients With Parkinson Disease
Dominik Pürner, Mohammad Hormozi, Daniel Weiß, Michael T. Barbe, Hannah Jergas, Tino Prell, Eileen Gülke, Monika Pötter-Nerger, Björn Falkenburger, Lisa Klingelhöfer, Pia K. Gutsmiedl, Bernhard Haslinger, Angela M. Jochim, Andreas Wolff, Nils Schröter, Mi
Neurology.2023;[Epub] CrossRef
Combining Device‐Aided Therapies in Parkinson's Disease: A Case Series and a Literature Review
Iro Boura, Nikolaos Haliasos, Ιrene‐Areti Giannopoulou, Dimitrios Karabetsos, Cleanthe Spanaki
Movement Disorders Clinical Practice.2021; 8(5): 750. CrossRef
Combined and Sequential Treatment with Deep Brain Stimulation and Continuous Intrajejunal Levodopa Infusion for Parkinson’s Disease
Daniël van Poppelen, Annelie N.M. Tromp, Rob M.A. de Bie, Joke M. Dijk
Journal of Personalized Medicine.2021; 11(6): 547. CrossRef
Personalised Advanced Therapies in Parkinson’s Disease: The Role of Non-Motor Symptoms Profile
Valentina Leta, Haidar S. Dafsari, Anna Sauerbier, Vinod Metta, Nataliya Titova, Lars Timmermann, Keyoumars Ashkan, Michael Samuel, Eero Pekkonen, Per Odin, Angelo Antonini, Pablo Martinez-Martin, Miriam Parry, Daniel J. van Wamelen, K. Ray Chaudhuri
Journal of Personalized Medicine.2021; 11(8): 773. CrossRef
Parkinson’s Kinetigraph in the Selection of Levodopa-Carbidopa Intestinal Gel for Motor Fluctuations Refractory to Deep Brain Stimulation
Yassine Noui, Monty Adam Silverdale, Julian Evans, Lucy Partington-Smith, Christopher Kobylecki
Journal of Movement Disorders.2021; 14(3): 239. CrossRef
The Choice Between Advanced Therapies for Parkinson’s Disease Patients: Why, What, and When?
Joke M. Dijk, Alberto J. Espay, Regina Katzenschlager, Rob M.A. de Bie, Bastiaan R. Bloem, Patrik Brundin
Journal of Parkinson's Disease.2020; 10(s1): S65. CrossRef

The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6: Jong Hyeon Ahn, Ah Reum Kim, Nayoung K. D. Kim, Woong-Yang Park, Ji Sun Kim, Minkyeong Kim, Jongkyu Park, Jung-Il Lee, Jin Whan Cho, Kyung Rae Cho, Jinyoung Youn; J Mov Disord. 2019;12(2):120-124. Published online May 30, 2019; DOI: https://doi.org/10.14802/jmd.19006

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Abstract PDF Supplementary Material

Objective
The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation.
Methods
We provide the first report of a dystonia patient with a genetically confirmed GNAL mutation in the Korean population and reviewed the literature on patients with the GNAL mutation who underwent GPi-DBS. We compared the effectiveness of DBS in patients with the GNAL mutation compared to that in patients with DYT1 and DYT6 in a previous study.
Results
Patients with the GNAL mutation and those with DYT1 had higher early responder rates (GNAL, 5/5, 100%; DYT1, 7/7, 100%) than did patients with DYT6 (p = 0.047). The responder rates at late follow-up did not differ statistically among the three groups (p = 0.278). The decrease in the dystonia motor scale score in the GNAL group was 46.9% at early follow-up and 63.4% at late follow-up.
Conclusion
GPi-DBS would be an effective treatment option for dystonia patients with the GNAL mutation who are resistant to medication or botulinum toxin treatment.

Citations

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The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
Journal of the Neurological Sciences.2024; 459: 122970. CrossRef
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation
Luigi Michele Romito, Fabio Paio, Nico Golfrè Andreasi, Celeste Panteghini, Sara Rinaldo, Ahmet Kaymak, Alberto Mazzoni, Fabiana Colucci, Vincenzo Levi, Giuseppe Messina, Barbara Garavaglia, Roberto Eleopra
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Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
Valentino Rački, Mario Hero, Eliša Papić, Gloria Rožmarić, Nada Starčević Čizmarević, Darko Chudy, Borut Peterlin, Vladimira Vuletić
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Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon
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Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn
Journal of Movement Disorders.2020; 13(2): 154. CrossRef
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Original Article

Pilot Study for Considering Subthalamic Nucleus Anatomy during Stimulation Using Directional Leads: Takashi Asahi, Kiyonobu Ikeda, Jiro Yamamoto, Hiroyuki Tsubono, Shuji Sato; J Mov Disord. 2019;12(2):97-102. Published online April 5, 2019; DOI: https://doi.org/10.14802/jmd.18054

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Abstract PDF

Objective
Directional leads are used for deep brain stimulation (DBS). Two of the four contacts of the leads are divided into three parts, enabling controlled stimulation in a circumferential direction. The direction of adverse effects evoked by DBS in the subthalamic nucleus (STN) and stimulation strategies using directional leads were evaluated. Methods Directional leads were implanted into the bilateral STN of six parkinsonian patients (1 man, 5 women; mean age 66.2 years). The contact centers were located within the upper border of the STN, and the locations were identified electrically using microrecordings. Adverse effects were evaluated with electrical stimulation (30 μs, 130 Hz, limit 11 mA) using the directional part of each lead after surgery, and the final stimulation direction was investigated. Unified Parkinson’s disease rating scale (UPDRS) scores were evaluated before and after DBS. Results Fifty-six motor and four sensory symptoms were evoked by stimulation; no adverse effect was evoked in 14 contacts. Motor and sensory symptoms were evoked by stimulation in the anterolateral direction and medial to posterolateral direction, respectively. Stimulation in the posteromedial direction produced adverse effects less frequently. The most frequently used contacts were located above the STN (63%), followed by the upper part of the STN (32%). The mean UPDRS part III and dyskinesia scores decreased after DBS from 30.2 ± 11.7 to 7.2 ± 2.9 and 3.3 ± 2.4 to 0.5 ± 0.8, respectively. Conclusion The incidence of adverse effects was low for the posteromedial stimulation of the STN. Placing the directional part of the lead above the STN may facilitate the control of dyskinesia.

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Walid Bouthour, Matthieu Béreau, Astrid Kibleur, André Zacharia, Emilie Tomkova Chaoui, Vanessa Fleury, Damien Benis, Shahan Momjian, Julien Bally, Christian Lüscher, Paul Krack, Pierre R. Burkhard
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Case Report

Treatment of Hemichoreoathetosis with Arrhythmic Proximal Tremor after Stroke: The Role of Zona Incerta as a Target for Deep Brain Stimulation: Andrei Koerbel, Augusto Radünz do Amaral, Helena Bedatti Zeh, Eduardo Wollmann, Renata Fabiola Heil Koerbel, Carla Moro, Alexandre Luiz Longo; J Mov Disord. 2019;12(1):47-51. Published online January 30, 2019; DOI: https://doi.org/10.14802/jmd.18032

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Abstract PDF Supplementary Material

Deep brain stimulation (DBS) of the zona incerta has shown promising results in the reduction of medically refractory movement disorders. However, evidence supporting its efficacy in movement disorders secondary to hemorrhagic stroke or hemichoreoathetosis is limited. We describe a 48-year-old man who developed progressive hemichoreoathetosis with an arrhythmic, proximal tremor in his right arm following a thalamic hemorrhagic stroke. Pharmacological treatment was carried out with no change in the Abnormal Involuntary Movement Scale (AIMS) score after 4 weeks (14). After six sessions of botulinum toxin treatment, a subtle improvement in the AIMS score (13) was registered, but no clinical improvement was noted. The arrhythmic proximal movements were significantly improved after DBS of the zona incerta with a major decrease in the patient’s AIMS score (8). The response to DBS occurring after the failure of pharmacological and botulinum toxin treatments suggests that zona incerta DBS may be an alternative for postthalamic hemorrhage movement disorders.

Citations

Citations to this article as recorded by

Deep brain stimulation for movement disorders after stroke: a systematic review of the literature
Mitch R. Paro, Michal Dyrda, Srinath Ramanan, Grant Wadman, Stacey-Ann Burke, Isabella Cipollone, Cory Bosworth, Sarah Zurek, Patrick B. Senatus
Journal of Neurosurgery.2022; : 1. CrossRef
Deep brain stimulation for post-thalamic stroke complex movement disorders
A. Macerollo, B. Hammersley, M. Bonello, J. Somerset, D. Bhargava, K. Das, J. Osman-Farah, P. R. Eldridge, S. H. Alusi
Neurological Sciences.2021; 42(1): 337. CrossRef
Neurologic Manifestations of Systemic Disease: Movement Disorders
Giulietta M. Riboldi, Steven J. Frucht
Current Treatment Options in Neurology.2021;[Epub] CrossRef

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