Article
Clinical Neurology
Sangeetha Yoganathan, Madhan Kumar, Suvasini Sharma, Smruti Patel, Sumita Danda, Maya Thomas
Summary: A 5-year-old girl presented with myoclonus and frequent falls for 2.5 years. A pathogenic heterozygous nonsense variant in exon 3 of the SGCE gene was identified.
Review
Clinical Neurology
Stephen Tisch
Summary: This review discusses the factors contributing to the variability in dystonia deep brain stimulation (DBS) outcomes, including dystonia-related factors and DBS-related factors. Recent findings include differential DBS benefits in different genotypes, experience with subthalamic nucleus (STN) DBS and DBS for Meige syndrome, understanding of DBS side effects, and new techniques for predicting clinical outcomes. Understanding these factors may help in patient selection and predicting surgical outcomes.
CURRENT OPINION IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Kenko Azuma, Shiro Horisawa, Hideaki Mashimo, Mitsumasa Fukuda, Satoko Kumada, Takakazu Kawamata, Takaomi Taira, Hiroyuki Akagawa
Summary: This study identified nine distinct SGCE mutations in 12 Japanese patients with SGCE myoclonus-dystonia using targeted next-generation sequencing. The study found that all the detected mutations were disease-causing, with one mutation leading to complete skipping of exons and two mutations resulting in significant reduction in cell membrane expression. The study also revealed that the p.Met449Val mutation specifically affects isoform 3, which is predominantly expressed in the cerebellum.
Letter
Clinical Neurology
Qing Wu, Yangyang Jiang, Jianjun Lu, Yong Zhang
Summary: This article describes a family in which several members exhibit varying degrees of myoclonus and dystonia, caused by a novel heterozygous mutation in the SGCE gene.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Biology
Hiroshi Koyama, Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Kazuhisa Miyake, Taku Matsuda, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Satoshi Goto, Yasushi Takagi
Summary: The study assessed the outcomes of 12 patients with TD who underwent GPi DBS, with an average BFMDRS improvement rate of 75.6% at 1 month postoperatively and 78.0% in the long term. Two patients responded poorly to DBS, which was attributed to longer duration from TD onset to surgery and older age at surgery.
Article
Medicine, General & Internal
Laura Surillo-Dahdah, Carlos A. Morfi-Pagan
Summary: This case series reports the diagnosis of myoclonus-dystonia syndrome (MDS) in two patients initially misdiagnosed with Tourette's syndrome. A mutation in the epsilon-sarcoglycan gene (SGCE) was identified in the first patient, whose father was also found to be a carrier of the same mutation. Both patients responded positively to levodopa treatment. These are the first reported cases of heterozygous pathogenic SGCE mutation in Puerto Rico.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Clinical Neurology
Meliza Angelica J. de Leon, Raymond L. Rosales, Christine Klein, Ana Westenberger
Summary: This study presents the neurologic and psychiatric phenotypic characteristics of the first Filipino bi-ethnic myoclonus-dystonia patient and her father. Genetic testing confirmed the clinical diagnosis and appropriate medication was given for the comorbid psychiatric symptoms.
Article
Clinical Neurology
Chun-Hwei Tai, Sheng-Che Chou, Chin-Hsien Lin, Wang-Tso Lee, Ruey-Meei Wu, Sheng-Hong Tseng
Summary: Patients with isolated dystonia, either monogenic or idiopathic, tend to respond better to GPi DBS compared to those with acquired dystonia. Selection of patients based on dystonia etiology, accurate placement of DBS leads in GPi targets, and proper stimulation programming are crucial for achieving better long-term outcomes.
WORLD NEUROSURGERY
(2022)
Article
Clinical Neurology
Carolina Candeias da Silva, Wilson Fung, Mojgan Hodaie, Alfonso Fasano
Summary: Cervical dystonia is a common adult-onset focal dystonia that can affect sleep quality. Deep brain stimulation (DBS) is an effective treatment for cervical dystonia, although its impact on sleep is not well understood. We present a case of an unusual form of insomnia in a patient with cervical dystonia following DBS surgery, which resolved after surgical revision of the extension wire.
Article
Multidisciplinary Sciences
Andreas Horn, Martin M. Reich, Siobhan Ewert, Ningfei Li, Bassam Al-Fatly, Florian Lange, Jonas Roothans, Simon Oxenford, Isabel Horn, Steffen Paschen, Joachim Runge, Fritz Wodarg, Karsten Witt, Robert C. Nickl, Matthias Wittstock, Gerd-Helge Schneider, Philipp Mahlknecht, Werner Poewe, Wilhelm Eisner, Ann-Kristin Helmers, Cordula Matthies, Joachim K. Krauss, Gunther Deuschl, Jens Volkmann, Andrea A. Kuhn
Summary: This study retrospectively investigated the clinical results of deep brain stimulation (DBS) for cervical and generalized dystonia in 80 patients. The researchers modeled the optimal stimulation sites based on imaging and found that the optimal treatment for cervical dystonia involved modulation of the striatopallidofugal axis, while pallidothalamic bundles were responsible for optimal treatment of generalized dystonia. Additionally, the study showed a common network substrate in the form of connectivity to the cerebellum and somatomotor cortex for both types of dystonia.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Clinical Neurology
Francesco Cavallieri, Valerie Fraix, Francesco Bove, Delia Mulas, Manuela Tondelli, Anna Castrioto, Paul Krack, Sara Meoni, Emmanuelle Schmitt, Eugenie Lhommee, Amelie Bichon, Pierre Pelissier, Eric Chevrier, Andrea Kistner, Eric Seigneuret, Stephan Chabardes, Elena Moro
Summary: This study identified preoperative predictors of long-term motor outcome in PD patients undergoing bilateral STN-DBS, with frontal lobe dysfunction, disease severity in the off-medication condition, and the presence of vascular changes on neuroimaging being the main predictors. Short-term motor outcome after STN-DBS was predicted by preoperative levodopa response, tremor dominant phenotype, baseline frontal score, and off-medication MDS-UPDRS part III scores.
ANNALS OF NEUROLOGY
(2021)
Review
Neurosciences
Stefanie Perl, Anika Luettig, Rudiger Koehling, Angelika Richter
Summary: This review provides an overview of DBS research in animal models of dystonia, discussing the research aims, opportunities and limitations of different animal models, and technical challenges.
NEUROBIOLOGY OF DISEASE
(2022)
Article
Clinical Neurology
Haibo Ren, Rong Wen, Wei Wang, Denghui Li, Mengqi Wang, Yuan Gao, Yang Xu, Yang Wu
Summary: The study found that GPi deep brain stimulation has good long-term efficacy in treating Meige syndrome, and there is a significant correlation between GPi-VTA and movement score improvement in the same patient. Age is an independent factor affecting the improvement of BFMDRS-M score.
NEUROSURGICAL REVIEW
(2022)
Article
Clinical Neurology
Aske Nicolai Hock, Steen Rusborg Jensen, Katrine Wordenskjold Svaerke, Jannick Brennum, Bo Jespersen, Ove Bergdal, Merete Karlsborg, Lena Elisabeth Hjermind, Annemette Lokkegaard
Summary: This long-term follow-up study observed 14 patients with cervical or generalized dystonia who received stimulation in GPi, STN or both targets. The results showed that both GPi-DBS and STN-DBS had long-term effects and were equally safe and effective for up to 15 years in dystonia treatment.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Clinical Neurology
Danilo Genovese, Francesco Bove, Leonardo Rigon, Tommaso Tufo, Alessandro Izzo, Paolo Calabresi, Anna Rita Bentivoglio, Carla Piano
Summary: This study assessed the clinical safety and efficacy of frameless bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) patients at 5 years after surgery. The results demonstrate that this technique is safe and well-tolerated, with sustained motor efficacy at 5 years post-surgery.
NEUROLOGICAL SCIENCES
(2023)
Article
Neurosciences
Stephen Tisch, Patricia Limousin
EXPERIMENTAL BRAIN RESEARCH
(2020)
Article
Clinical Neurology
Dora Steel, Michael Zech, Chen Zhao, Katy E. S. Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matej Skorvanek, Jan Necpal, Ryan Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik-Jan Kamsteeg, Marina A. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabe I. Bustos, Paulina Gonzalez-Latapi, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Boetzel, Jan C. Koch, Tomasz Kmiec, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nick Wood, Henry Houlden, Paul Gissen, Steven J. Lubbe, Carolyn M. Sue, Laura Cif, Niccolo E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann
ANNALS OF NEUROLOGY
(2020)
Review
Clinical Neurology
Stephen Tisch, Kishore Raj Kumar
Summary: GPi DBS is an effective intervention for refractory dystonia, with factors such as disease duration and subtype influencing outcomes. Other factors affecting variability in results include body distribution, pattern of dystonia, and DBS-related factors. Different monogenic forms of dystonia may respond differently to DBS.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
David N. Wilson, Yael Barnett, Kain Kyle, Stephen Tisch, Benjamin P. Jonker
Summary: Magnetic resonance-guided focused ultrasound (MRgFUS) is increasingly used in treating movement disorders. Skull density ratio (SDR) is correlated with lesion temperature rises, while brain and cerebrospinal fluid (CSF) volume have an impact on post-treatment lesion sizes.
JOURNAL OF CLINICAL NEUROSCIENCE
(2021)
Review
Clinical Neurology
James Peters, Stephen Tisch
Summary: Deep brain stimulation is an effective treatment for essential, dystonic, and Parkinson's tremor, but long-term benefit can be reduced due to stimulation tolerance or habituation. The exact mechanisms and management of habituation in DBS for tremor syndromes remain unclear and challenging.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medicine, General & Internal
Lucy Vivash, Kelly L. Bertram, Charles B. Malpas, Cassandra Marotta, Ian H. Harding, Scott Kolbe, Joanne Fielding, Meaghan Clough, Simon J. G. Lewis, Stephen Tisch, Andrew H. Evans, John D. O'Sullivan, Thomas Kimber, David Darby, Leonid Churilov, Meng Law, Christopher M. Hovens, Dennis Velakoulis, Terence J. O'Brien
Summary: Progressive supranuclear palsy (PSP) is a neurodegenerative disorder with no currently available disease-modifying therapies. This study aims to evaluate the efficacy and safety of sodium selenate as a potential disease-modifying therapy for PSP through a multi-site, phase 2b, double-blind, placebo-controlled trial. The primary outcome will be the change in MRI volume composite over the treatment period.
Article
Genetics & Heredity
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
Summary: This study reports the first KMT2B synonymous variant associated with dystonia. Reassessment of synonymous variants may increase the diagnostic yield for inherited disorders like monogenic dystonia.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Review
Clinical Neurology
Stephen Tisch
Summary: This review discusses the factors contributing to the variability in dystonia deep brain stimulation (DBS) outcomes, including dystonia-related factors and DBS-related factors. Recent findings include differential DBS benefits in different genotypes, experience with subthalamic nucleus (STN) DBS and DBS for Meige syndrome, understanding of DBS side effects, and new techniques for predicting clinical outcomes. Understanding these factors may help in patient selection and predicting surgical outcomes.
CURRENT OPINION IN NEUROLOGY
(2022)
Review
Neurosciences
Anna Stroud, Stephen Tisch, Benjamin P. Jonker
Summary: Cerebellar stimulation is emerging as a potential therapeutic approach for dystonia, particularly in cases of acquired etiology. This article presents a case study of successful treatment of dystonia in a patient with dyskinetic cerebral palsy using stimulation of the cerebellar cortex. The review of evidence and latest reports highlights the increasing recognition of the role of the cerebellum in dystonia pathophysiology and the potential of cerebellar stimulation as a target for neurostimulation.
STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
(2023)
Article
Genetics & Heredity
Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J. Roberts, Brent L. Fogel, Norbert Bruggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Summary: This study identified an intronic (GAA) repeat expansion in FGF14 and demonstrated that (GAA)>335 is a disease-causing variant while (GAA)>250 is likely pathogenic. Affected individuals presented with adult-onset cerebellar ataxia with variable features.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Joel Maamary, James Peters, Kain Kyle, Yael Barnett, Benjamin Jonker, Stephen Tisch
Summary: We present two cases of tremor dominant Parkinson's disease (PD) in which tremor recurrence occurred following MRgFUS thalamotomy, and subsequent successful treatment with subthalamic nucleus deep brain stimulation (DBS). Our findings demonstrate the efficacy and feasibility of STN DBS in treating tremor recurrence in patients with tremor dominant PD after MRgFUS thalamotomy. The duality of tremor outflow pathways may have implications for lesional therapies.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Medicine, General & Internal
Alison McLean, Michel Tchan, Sophie Devery, Renee Smyth, Rupendra Shrestha, Kishore R. R. Kumar, Susan Tomlinson, Stephen Tisch, Kathy H. C. Wu
Summary: This study retrospectively reviewed the referral indications and outcomes of an integrated multidisciplinary team clinic pathway for adults with suspected neurogenic disorders. The results showed that 33% of patients received a diagnosis, with the high diagnostic yield attributed to multidisciplinary input and accurate phenotyping.
INTERNAL MEDICINE JOURNAL
(2023)
Article
Clinical Neurology
Kain Kyle, Jerome Maller, Yael Barnett, Benjamin Jonker, Michael Barnett, Arkiev D'Souza, Fernando Calamante, Joel Maamary, James Peters, Chenyu Wang, Stephen Tisch
Summary: This study retrospectively analyzed data from 31 ET patients treated with MRgFUS. The results showed that tremor symptoms were significantly reduced after treatment, and the treatment outcome was associated with factors such as age, ablation overlap, and SDR standard deviation.
FRONTIERS IN NEUROLOGY
(2023)
Letter
Clinical Neurology
Claire E. Shepherd, Simon J. G. Lewis, Stephen Tisch, Heather McCann, Ben Jonker, Glenda M. Halliday
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2023)
Article
Clinical Neurology
James Peters, Joel Maamary, Kain Kyle, Nick Olsen, Lyndsey Jones, Samuel Bolitho, Yael Barnett, Benjamin Jonker, Stephen Tisch
Summary: This study compared the outcomes of unilateral MRgFUS thalamotomy in different tremor syndromes. The results showed significant improvements in HTS and QUEST at 24 months postoperatively in ET and DT patients, while the initial benefits observed in PDT patients waned over time. These findings suggest that unilateral MRgFUS thalamotomy has a similar expected outcome for DT patients as those diagnosed with ET, but PDT patients should be warned of the risk of treatment failure.
MOVEMENT DISORDERS
(2023)