Article
Clinical Neurology
Cecile Delorme, Emmanuel Roze, Carine Karachi, Marie Vidailhet, Elodie Hainque
Summary: This case study documented a 44-year-old patient with a wide phenotypic spectrum of generalized dystonia associated with TUBB4A gene mutations. After undergoing bipallidal deep brain stimulation surgery, a significant reduction in dystonia severity was observed, particularly in the cervical and facial regions.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Paola Imbriani, Giuseppe Sciamanna, Ilham El Atiallah, Silvia Cerri, Ellen J. Hess, Antonio Pisani
Summary: Alcohol consumption affects motor behavior and control, but the therapeutic mechanism for movement disorders like myoclonus-dystonia remains unclear, with few systematic trials on GABA drugs mimicking alcohol effects. This survey aims to summarize the impact of EtOH on striatal function and provide a mechanistic explanation for alcohol-responsive movement disorders, suggesting potential drug repositioning based on different hypotheses.
Article
Clinical Neurology
Alexey Sedov, Valentin Popov, Anna Gamaleya, Ulia Semenova, Alexey Tomskiy, Hyder A. Jinnah, Aasef G. Shaikh
Summary: Neuronal behavior in pallidal regions responsive to deep brain stimulation in cervical dystonia patients showed lower firing rates and bursting activity compared to non-responsive regions. These results provide novel insights into the physiology of globus pallidus interna neurons in cervical dystonia.
CLINICAL NEUROPHYSIOLOGY
(2021)
Review
Clinical Neurology
Davide Paoli, Russell Mills, Una Brechany, Nicola Pavese, Claire Nicholson
Summary: This study reviewed the application of double-targeting strategy in the treatment of patients with mixed tremor and dystonia and reported a case series of nine patients at our center. The results showed that the double-targeting strategy achieved significant and durable improvement in controlling tremor and dystonia, and demonstrated good efficacy in improving quality of life.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Taku Matsuda, Ryoma Morigaki, Yuki Matsumoto, Hideo Mure, Kazuhisa Miyake, Masahito Nakataki, Masafumi Harada, Yasushi Takagi
Summary: This study aimed to investigate the correlations between motor symptoms and obsessive-compulsive symptoms, as well as between the volumes of basal ganglia components and obsessive-compulsive symptoms. The results revealed a positive correlation between obsessive-compulsive symptoms and the volumes of the nucleus accumbens, while motor symptoms showed a negative correlation. This highlights the potential pathogenesis of obsessive-compulsive disorder and dystonia.
SCIENTIFIC REPORTS
(2022)
Review
Clinical Neurology
Ryuji Kaji
Summary: Dystonia is the second most common movement disorder, and its pathophysiology remains unknown. Current therapeutic measures include medication and surgery, but some patients are resistant to treatment. Research suggests that the basal ganglia and cerebellum play a crucial role in the development of dystonia.
FRONTIERS IN NEUROLOGY
(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
Neurosciences
Marco Heerdegen, Monique Zwar, Denise Franz, Julia Hoernschemeyer, Valentin Neubert, Franz Plocksties, Christoph Niemann, Dirk Timmermann, Christian Bahls, Ursula van Rienen, Maria Paap, Stefanie Perl, Anika Luettig, Angelika Richter, Rudiger Koehling
Summary: DBS can increase cortico-striatal evoked responses in healthy tissue, but not in dystonic tissue. It also enhances inhibitory control in dystonic tissue and decreases inhibitory control in healthy tissue, suggesting modulation of presynaptic mechanisms.
NEUROBIOLOGY OF DISEASE
(2021)
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)
Review
Clinical Neurology
Hao Deng, Bo-tao Xiong, Yang Wu, Wei Wang
Summary: Based on a systematic review of 12 cases, deep brain stimulation (DBS) has shown varying degrees of improvement in dystonia and self-injurious behavior in Lesch-Nyhan syndrome (LNS) patients. However, the outcomes and safety of DBS are still unpredictable, with common complications reported. Further research is needed to clarify the effectiveness and safety of this treatment.
NEUROSURGICAL REVIEW
(2023)
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
Xavier Palard-Novello, Sophie Drapier, Alexandre Bonnet, Antoine Girard, Gabriel Robert, Jean-Francois Houvenaghel, Paul Sauleau, Marc Verin, Claire Haegelen, Florence Le Jeune
Summary: The study confirmed that GPi-DBS is an effective treatment for patients with Parkinson's disease, mainly through improving metabolic changes in the areas involved in motor execution. Patients showed significant improvement in motor status after surgery, with no changes in cognitive and psychiatric status, and no significant metabolic changes in the limbic circuit.
JOURNAL OF NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Anna Kutschenko, Selma Staege, Karen Grutz, Hannes Glab, Norman Kalmbach, Thomas Gschwendtberger, Lisa M. Henkel, Johanne Heine, Anne Grunewald, Andreas Hermann, Philip Seibler, Florian Wegner
Summary: Myoclonus-dystonia (DYT-SGCE), a rare neurological disorder caused by mutations in the SGCE gene, is characterized by abnormal Ca2+ signaling, synaptic density, and electrical properties in patient-derived neurons. This study provides insights into the pathophysiology of the disease and potential novel therapeutic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Alexander Calvano, Laura Beccaria, Lars Timmermann, Miriam H. A. Bopp, Marko Gjorgjevski, Christopher Nimsky, David J. Pedrosa
Summary: Personalized structural considerations, particularly using patient-specific connectome analysis, can provide important insights for the treatment of secondary myoclonus-dystonia syndromes.
FRONTIERS IN NEUROLOGY
(2023)