Journal of Movement Disorders

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 Article

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

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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Abstract PDF Supplementary Material

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

Citations to this article as recorded by

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
Journal of Movement Disorders.2023; 16(3): 285. CrossRef
Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases
Priyanka Dey Talukdar, Urmi Chatterji
Signal Transduction and Targeted Therapy.2023;[Epub] CrossRef
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
Internal Medicine.2022; 61(15): 2357. CrossRef
Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
V. A. Bulanova, M. A. Bykanova, N. А. Kuleva
Russian Journal of Child Neurology.2022; 17(3): 79. CrossRef
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
Chrysoula Marogianni, Despoina Georgouli, Katerina Dadouli, Panagiotis Ntellas, Dimitrios Rikos, Georgios M. Hadjigeorgiou, Cleanthi Spanaki, Georgia Xiromerisiou
Molecular Biology Reports.2021; 48(1): 371. CrossRef
Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon
Journal of Neural Transmission.2021; 128(4): 539. CrossRef
Deep Brain Stimulation for Pediatric Dystonia
Travis Larsh, Steve W. Wu, Sudhakar Vadivelu, Gerald A. Grant, Jennifer A. O'Malley
Seminars in Pediatric Neurology.2021; 38: 100896. CrossRef
Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech
Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Steffen Berweck
Frontiers in Neurology.2021;[Epub] CrossRef
Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases
Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
Annals of Clinical and Translational Neurology.2020; 7(10): 2047. CrossRef
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,
Brain.2020; 143(11): 3242. CrossRef

Brief communication

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

Original Article

Comparison of Pallidal and Subthalamic Deep Brain Stimulation in Parkinson’s Disease: Therapeutic and Adverse Effects: Ho-Sung Ryu, Mi-Sun Kim, Sooyeoun You, Mi-Jung Kim, Young Jin Kim, Juyeon Kim, Kiju Kim, Sun Ju Chung; J Mov Disord. 2017;10(2):80-86. Published online May 8, 2017; DOI: https://doi.org/10.14802/jmd.17001

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Abstract PDF Supplementary Material

Objective
To compare the therapeutic and adverse effects of globus pallidus interna (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) for the treatment of advanced Parkinson’s disease (PD).
Methods
We retrospectively analyzed the clinical data of patients with PD who underwent GPi (n = 14) or STN (n = 28) DBS surgery between April 2002 and May 2014. The subjects were matched for age at surgery and disease duration. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and levodopa equivalent dose (LED) at baseline and 12 months after surgery were used to assess the therapeutic effects of DBS. Adverse effects were also compared between the two groups.
Results
At 12 months, the mean changes in the UPDRS total and part I–IV scores did not differ significantly between the two groups. However, the subscores for gait disturbance/postural instability and dyskinesia were significantly more improved after GPi DBS than those after STN DBS (p = 0.024 and 0.016, respectively). The LED was significantly more reduced in patients after STN DBS than that after GPi DBS (p = 0.004). Serious adverse effects did not differ between the two groups (p = 0.697).
Conclusion
The patients with PD showed greater improvement in gait disturbance/postural instability and dyskinesia after GPi DBS compared with those after STN DBS, although the patients had a greater reduction in LED after STN DBS. These results may provide useful information for optimal target selection for DBS in PD.

Citations

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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
The Role of Microelectrode Recording in Deep Brain Stimulation Surgery for Parkinson’s Disease: A Systematic Review and Meta-Analysis
R. Saman Vinke, Martin Geerlings, Ashok K. Selvaraj, Dejan Georgiev, Bastiaan R. Bloem, Rianne A.J. Esselink, Ronald H.M.A. Bartels
Journal of Parkinson's Disease.2022; 12(7): 2059. CrossRef
Motor Thalamic Deep Brain Stimulation Alters Cortical Activity and Shows Therapeutic Utility for Treatment of Parkinson’s Disease Symptoms in a Rat Model
Heidi R. Tucker, Emily Mahoney, Kainat Akhtar, Tzu-Jen Kao, Gianna Mamone, Saisree Mikkilineni, Maya Ravi, Hanel Watkins, Danielle-Lee Terrelonge, Caryn Martin, Kristen Unger, Gabrielle Kim, Kyra Fiber, Megan Gupta, Jonathan Indajang, Eliyahu M. Kochman,
Neuroscience.2021; 460: 88. CrossRef
Current Knowledge on the Background, Pathophysiology and Treatment of Levodopa-Induced Dyskinesia—Literature Review
Michał Hutny, Jagoda Hofman, Aleksandra Klimkowicz-Mrowiec, Agnieszka Gorzkowska
Journal of Clinical Medicine.2021; 10(19): 4377. CrossRef
Estimating Risk for Future Intracranial, Fully Implanted, Modular Neuroprosthetic Systems: A Systematic Review of Hardware Complications in Clinical Deep Brain Stimulation and Experimental Human Intracortical Arrays
Autumn J. Bullard, Brianna C. Hutchison, Jiseon Lee, Cynthia A. Chestek, Parag G. Patil
Neuromodulation: Technology at the Neural Interface.2020; 23(4): 411. CrossRef
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
Journal of Movement Disorders.2020; 13(2): 127. CrossRef
Treatment strategies in advanced Parkinson's disease: Review of the literature
Yıldız Değirmenci
Cumhuriyet Medical Journal.2017; 39(3): 509. CrossRef

Case Reports

Holmes’ Tremor with Shoulder Pain Treated by Deep Brain Stimulation of Unilateral Ventral Intermediate Thalamic Nucleus and Globus Pallidus Internus: Sabri Aydın, Huseyin Canaz, Ezgi Tuna Erdogan, Nazlı Durmaz, Barıs Topcular; J Mov Disord. 2017;10(2):92-95. Published online April 18, 2017; DOI: https://doi.org/10.14802/jmd.16051

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Abstract PDF

A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor. Neurologic examination revealed a disabling, severe, and irregular kinetic and postural tremor in the right arm during target-directed movements. There was also an irregular ipsilateral rest tremor and dystonic movements in the distal part of the right arm. The amplitude was moderate at rest and extremely high during kinetic and intentional movements. The patient underwent left globus pallidum internus and ventral intermediate thalamic nucleus deep brain stimulation. The patient improved by more than 80% as rated by the Fahn-Tolosa-Marin Tremor Rating Scale and Visual Analog Scale six months after surgery.

Citations

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Holmes tremor: an updated review
Efstratios-Stylianos Pyrgelis, Eleni Agapiou, Efthalia Angelopoulou
Neurological Sciences.2022; 43(12): 6731. CrossRef
Deep brain stimulation of the posterior subthalamic area as an alternative strategy for management of Holmes tremor: A case report and review of the literature
Omid Yousefi, Mojtaba Dayyani, Razieh Rezaei, Hooman Kamran, Ali Razmkon
Surgical Neurology International.2022; 13: 489. CrossRef
Vim stereotactic radiosurgical thalamotomy for drug-resistant idiopathic Holmes tremor: a case report
Manjul Tripathi, Sahil Mehta, Raghav Singla, Chirag K. Ahuja, Naresh Tandalya, Constantin Tuleasca, Aman Batish, Sandeep Mohindra, Abhinav Agrahari, Rupinder Kaur
Acta Neurochirurgica.2021; 163(7): 1867. CrossRef
Deep brain stimulation in uncommon tremor disorders: indications, targets, and programming
Carlo Alberto Artusi, Ashar Farooqi, Alberto Romagnolo, Luca Marsili, Roberta Balestrino, Leonard L. Sokol, Lily L. Wang, Maurizio Zibetti, Andrew P. Duker, George T. Mandybur, Leonardo Lopiano, Aristide Merola
Journal of Neurology.2018; 265(11): 2473. CrossRef

Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige Syndrome: Dae-Woong Bae, Byung-chul Son, Joong-Seok Kim; J Mov Disord. 2014;7(2):92-94. Published online October 30, 2014; DOI: https://doi.org/10.14802/jmd.14013

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Abstract PDF

Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS) in the globus pallidus interna (GPi). This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects.

Citations

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Pallidal versus subthalamic deep brain stimulation for Meige syndrome: A systematic review and meta-analysis
Xin Wu, Tao Xue, Shiqing Pan, Weikang Xing, Chuanjun Huang, Jianguo Zhang, Guozheng Zhao
Heliyon.2024; 10(6): e27945. CrossRef
Bilateral pallidal DBS for blepharospasm: A case report and review of the literature
Joshua Lucas, Dorian Kusyk, Donald Whiting
Surgical Neurology International.2022; 13: 200. CrossRef
Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update
Hongying Ma, Jian Qu, Liangjun Ye, Yi Shu, Qiang Qu
Frontiers in Neurology.2021;[Epub] CrossRef
Pallidal versus subthalamic deep-brain stimulation for meige syndrome: a retrospective study
Jiayu Liu, Hu Ding, Ke Xu, Ruen Liu, Dongliang Wang, Jia Ouyang, Zhi Liu, Zeyu Miao
Scientific Reports.2021;[Epub] CrossRef
Predictive factors for long-term clinical outcomes of deep brain stimulation in the treatment of primary Meige syndrome
Xin Wang, Zhiqi Mao, Zhiqiang Cui, Xin Xu, Longsheng Pan, Shuli Liang, Zhipei Ling, Xinguang Yu
Journal of Neurosurgery.2020; 132(5): 1367. CrossRef
Long-Term Efficacy of Deep Brain Stimulation of Bilateral Globus Pallidus Internus in Primary Meige Syndrome
Hong Tian, Yanbing Yu, Xueke Zhen, Li Zhang, Yue Yuan, Bo Zhang, Liang Wang
Stereotactic and Functional Neurosurgery.2019; 97(5-6): 356. CrossRef
Meige's syndrome: History, epidemiology, clinical features, pathogenesis and treatment
Sanjay Pandey, Soumya Sharma
Journal of the Neurological Sciences.2017; 372: 162. CrossRef

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