Article
Clinical Neurology
Daniel T. Corp, Christopher J. Greenwood, Jordan Morrison-Ham, Jaakko Pullinen, Georgia M. McDowall, Ellen F. P. Younger, Hyder A. Jinnah, Michael D. Fox, Juho Joutsa
Summary: This study identified cases of lesion-induced dystonia from published literature and classified patients into subgroups based on lesion location and body regions affected by dystonia. Significant differences were found between these subgroups on a range of dystonia symptoms.
Article
Clinical Neurology
Anna Sadnicka, Lorenzo Rocchi, Anna Latorre, Elena Antelmi, James Teo, Isabel Parees, Britt S. Hoffland, Kristian Brock, Katja Kornysheva, Mark J. Edwards, Kailash P. Bhatia, John C. Rothwell
Summary: This study aimed to examine the influence of dystonia on eyeblink conditioning and explore its relationship with sex, age, and dystonia subtypes. The results showed that isolated dystonia and its subtypes had similar eyeblink conditioning levels compared to the control group, and a wide range of variability was observed in both healthy individuals and dystonia patients. This finding suggests that there is no global cerebellar learning deficit in isolated dystonia.
MOVEMENT DISORDERS
(2022)
Article
Biology
Hind Baba Aissa, Romain W. Sala, Elena Laura Georgescu Margarint, Jimena Laura Frontera, Andres Pablo Varani, Fabien Menardy, Assunta Pelosi, Denis Herve, Clement Lena, Daniela Popa
Summary: The study found that in the DYT25 dystonia model, the excitability of the cerebello-thalamic pathways increased in the presymptomatic state, and asymptomatic mice after the first dystonic episode exhibited higher excitability, which persisted after cerebellar theta-burst stimulation. Stimulation administered during symptomatic states reduced cerebello-thalamic excitability and alleviated dystonic symptoms.
Article
Neurosciences
Abhimanyu Mahajan, Palak Gupta, Jonathan Jacobs, Luca Marsili, Andrea Sturchio, H. A. Jinnah, Alberto J. Espay, Aasef G. Shaikh
Summary: The study examined the role of the cerebellum in tremor-dominant cervical dystonia patients by measuring the adaptive capacity of rapid reflexive eye movements. It found that patients lacked both fast and slow timescales in saccade adaptation, indicating maladaptive cerebellar outflow as a potential pathophysiological basis for the disorder.
Review
Clinical Neurology
Pattamon Panyakaew, Hyder A. Jinnah, Aasef G. Shaikh
Summary: Dystonia and tremor often coexist, either sharing biological mechanisms or as comorbid conditions. This paper compares and identifies the differences and limitations between two definitions of dystonic tremor, and discusses methods to separate tremor subtypes in dystonia based on objective measures and single neuron physiology analyses.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Elan D. D. Louis, Regina T. T. Martuscello, John T. T. Gionco, Whitney G. G. Hartstone, Jessica B. B. Musacchio, Marisa Portenti, Morgan McCreary, Sheng-Han Kuo, Jean-Paul G. Vonsattel, Phyllis L. L. Faust
Summary: In recent years, morphologic changes have been identified in the cerebellar cortex of essential tremor (ET) patients. However, these findings have not been fully understood in the context of other degenerative diseases. In this study, the authors compared degenerative changes in the cerebellar cortex of ET patients with other neurodegenerative disorders and control brains. They found that ET had distinct patterns of degenerative changes compared to other disorders, indicating its unique pathology.
ACTA NEUROPATHOLOGICA
(2023)
Article
Neurosciences
Abhimanyu Mahajan, Lyndsey Schroder, Aleksander Rekhtman, Alok K. Dwivedi, Lily L. Wang, Alberto J. Espay
Summary: This study found that head tremor at onset in tremor-dominant subtype of cervical dystonia (CD) is associated with more severe axial cerebellar disability and atrophy of the superior vermis of the cerebellum.
Article
Clinical Neurology
Jana Schill, Kirsten E. Zeuner, Arne Knutzen, Inken Toedt, Kristina Simonyan, Karsten Witt
Summary: Research found that patients with writer's cramp recruited fewer regions in their neuronal network that were functionally more segregated, yet this did not impair the network's efficiency for information transfer. Hub analysis revealed alterations in communication patterns of key brain regions, suggesting compensatory rerouting within the patient network. Preliminary findings also indicated abnormal cerebellar connectivity in patients with simple writer's cramp, which was less prominent in those with complex writer's cramp.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Miaozhen Huang, Tom J. de Koning, Marina A. J. Tijssen, Dineke S. Verbeek
Summary: The study identifies shared genes and biological pathways between depression, ataxia, and dystonia, suggesting common pathophysiology especially in the cerebellum. The shared biological processes across the three diseases mainly involve synaptic transmission, synaptic plasticity, and nervous system development.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2021)
Article
Neurosciences
Meike E. van der Heijden, Dominic J. Kizek, Ross Perez, Elena K. Ruff, Michelle E. Ehrlich, Roy V. Sillitoe
Summary: Loss-of-function mutations in the THAP1 gene cause partially penetrant autosomal dominant dystonia type 6. Some non-manifesting carriers of DYT6 mutations exhibit tremor and abnormal cerebello-thalamo-cortical signaling. Thap1 heterozygote mice show action tremor, reduced cerebellar neuron numbers, and abnormal electrophysiological signals, highlighting the importance of Thap1 levels for cerebellar function.
JOURNAL OF PHYSIOLOGY-LONDON
(2021)
Review
Neurosciences
Ilham El Atiallah, Paola Bonsi, Annalisa Tassone, Giuseppina Martella, Gerardo Biella, Antonio N. Castagno, Antonio Pisani, Giulia Ponterio
Summary: This review discusses the expanded understanding of molecular mechanisms underlying dystonia through animal models in recent years, emphasizing the common synaptic alterations found in different forms of dystonia. Particularly, the abnormal motor network and synaptic dysfunction are key elements in the pathophysiology of dystonia.
CURRENT NEUROPHARMACOLOGY
(2023)
Review
Clinical Neurology
Norbert Brueggemann
Summary: Dystonia is a movement disorder characterized by abnormal postures or movement patterns, with pathophysiological mechanisms including impaired sensorimotor integration, loss of inhibitory control on multiple levels of the central nervous system, and changes in synaptic plasticity. In addition to traditional views involving the basal ganglia, studies also highlight the role of the cerebellum, cerebello-thalamic connections, and the interplay between the basal ganglia and cerebellum in dystonia's pathophysiology. Other emerging topics include understanding the microarchitecture of the striatum and its implications for dystonia.
JOURNAL OF NEURAL TRANSMISSION
(2021)
Article
Clinical Neurology
Giovanna Lagravinese, Gabriella Santangelo, Gaia Bonassi, Sofia Cuoco, Roberta Marchese, Francesca Di Biasio, Roberto Erro, Elisa Pelosin, Laura Avanzino
Summary: The study found that patients with CD have impaired Theory of Mind (ToM) abilities, with those exhibiting tremors showing more severe deficits in cognitive ToM.
JOURNAL OF NEURAL TRANSMISSION
(2021)
Article
Clinical Neurology
Giuseppe A. Zito, Clement Tarrano, Prasanthi Jegatheesan, Asya Ekmen, Benoit Beranger, Michael Rebsamen, Cecile Hubsch, Sophie Sangla, Cecilia Bonnet, Cecile Delorme, Aurelie Meneret, Bertrand Degos, Floriane Bouquet, Marion Apoil Brissard, Marie Vidailhet, Cecile Gallea, Emmanuel Roze, Yulia Worbe
Summary: This study investigated the resting state functional connectivity in different body representation areas within the motor cortex and cerebellum in cervical dystonia patients. Patients showed increased functional connectivity between bilateral trunk representation area of the motor cortex and cerebellar vermis, which did not correlate with structural changes or symptom severity.
PARKINSONISM & RELATED DISORDERS
(2022)
Editorial Material
Clinical Neurology
Shiro Horisawa, Kotaro Kohara, Takaomi Taira
Summary: This article reports a rare case of intraparenchymal cyst formation around a deep cerebellar stimulation electrode. The patient developed symptoms after the surgery and underwent aspiration surgery, resulting in a gradual decrease in cystic formations.
WORLD NEUROSURGERY
(2022)
Article
Neurosciences
Cecilia N. Prudente, Randall Stilla, Cathrin M. Buetefisch, Shivangi Singh, Ellen J. Hess, Xiaoping Hu, Krish Sathian, H. A. Jinnah
JOURNAL OF NEUROSCIENCE
(2015)
Article
Clinical Neurology
Ceclia N. Prudente, Randall Stilla, Shivangi Singh, Cathrin Buetefisch, Marian Evatt, Stewart A. Factor, Alan Freeman, Xiaoping Philip Hu, Ellen J. Hess, K. Sathian, H. A. Jinnah
FRONTIERS IN NEUROLOGY
(2016)
Article
Neurosciences
Zhihao Li, Cecilia N. Prudente, Randall Stilla, K. Sathian, H. A. Jinnah, Xiaoping Hu
HUMAN BRAIN MAPPING
(2017)
Article
Orthopedics
Chao-Ying Chen, Corey W. McGee, Tonya L. Rich, Cecilia N. Prudente, Bernadette T. Gillick
JOURNAL OF HAND THERAPY
(2018)
Article
Neurosciences
Mo Chen, Rebekah L. S. Summers, George S. Goding, Sharyl Samargia, Christy L. Ludlow, Cecilia N. Prudente, Teresa J. Kimberley
FRONTIERS IN NEUROSCIENCE
(2017)
Review
Clinical Neurology
Sarah Pirio Richardson, Eckart Altenmueller, Katharine Alter, Ron L. Alterman, Robert Chen, Steven Frucht, Shinichi Furuya, Joseph Jankovic, H. A. Jinnah, Teresa J. Kimberley, Codrin Lungu, Joel S. Perlmutter, Cecilia N. Prudente, Mark Hallett
FRONTIERS IN NEUROLOGY
(2017)
Article
Medicine, Research & Experimental
Mo Chen, Maira C. Lixandrao, Cecilia N. Prudente, Rebekah L. S. Summers, Teresa J. Kimberley
Article
Clinical Neurology
Teresa J. Kimberley, David Pierce, Cecilia N. Prudente, Gerard E. Francisco, Nuray Yozbatiran, Patricia Smith, Brent Tarver, Navzer D. Engineer, David Alexander Dickie, Danielle K. Kline, Jane G. Wigginton, Steven C. Cramer, Jesse Dawson
Review
Neurosciences
Navzer D. Engineer, Teresa J. Kimberley, Cecilia N. Prudente, Jesse Dawson, W. Brent Tarver, Seth A. Hays
FRONTIERS IN NEUROSCIENCE
(2019)
Article
Clinical Neurology
Daniel T. Corp, Juho Joutsa, R. Ryan Darby, Catherine C. S. Delnooz, Bart P. C. van de Warrenburg, Danielle Cooke, Cecilia N. Prudente, Jianxun Ren, Martin M. Reich, Amit Batla, Kailash P. Bhatia, Hyder A. Jinnah, Hesheng Liu, Michael D. Fox
Article
Neurosciences
Cecilia N. Prudente, Mo Chen, Kaila L. Stipancic, Katherine L. Marks, Sharyl Samargia-Grivette, George S. Goding, Jordan R. Green, Teresa J. Kimberley
Summary: The study aimed to investigate the safety, feasibility, and effects of a single session 1 Hz rTMS in individuals with adductor laryngeal dystonia. Results showed potential benefits on voice quality and phonatory function in the treatment group.
EXPERIMENTAL BRAIN RESEARCH
(2022)
Article
Rehabilitation
Gerard E. Francisco, Navzer D. Engineer, Jesse Dawson, Teresa J. Kimberley, Steven C. Cramer, Cecilia N. Prudente, David Pierce, W. Brent Tarver, Reema H. Adham Hinds, Ann van de Winckel, Nuray Yozbatiran
Summary: The aim of this study was to assess the long-term feasibility and benefits of Paired VNS therapy for adults with chronic ischemic stroke. The study involved three centers in the United States and one in the United Kingdom. Participants underwent VNS implantation and received in-clinic therapy followed by home-based rehabilitation. The results showed significant improvements in upper extremity function and motor skills, with no serious adverse events.
ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
(2023)
Article
Clinical Neurology
Jesse Dawson, Navzer D. Engineer, Steven C. Cramer, Steven L. Wolf, Rushna Ali, Michael W. O'Dell, David Pierce, Cecilia N. Prudente, Jessica Redgrave, Wuwei Feng, Charles Y. Liu, Gerard E. Francisco, Benjamin L. Brown, Anand Dixit, Jen Alexander, Louis DeMark, Vibor Krishna, Steven A. Kautz, Arshad Majid, Brent Tarver, Duncan L. Turner, Teresa J. Kimberley
Summary: In people with chronic arm weakness after stroke, Vagus Nerve Stimulation (VNS) paired with rehabilitation showed consistent improvement in upper extremity impairment and function, regardless of age or severity of injury.
NEUROREHABILITATION AND NEURAL REPAIR
(2023)
Article
Clinical Neurology
Jesse Dawson, Navzer D. Engineer, Cecilia N. Prudente, David Pierce, Gerard Francisco, Nuray Yozbatiran, W. Brent Tarver, Reema Casavant, Danielle K. Kline, Steven C. Cramer, Ann Van de Winckel, Teresa J. Kimberley
NEUROREHABILITATION AND NEURAL REPAIR
(2020)
Review
Clinical Neurology
Cecilia N. Prudente, Lena Zetterberg, Annika Bring, Lynley Bradnam, Teresa J. Kimberley
MOVEMENT DISORDERS CLINICAL PRACTICE
(2018)
Article
Neurosciences
Yang He, Jun Tang, Meng Zhang, Junjie Ying, Dezhi Mu
Summary: This study investigated the protective effects and mechanisms of human placenta derived mesenchymal stem cells (hPMSCs) transplantation in a rat model of hypoxic-ischemic encephalopathy (HIE). The results showed that hPMSCs transplantation reduced apoptosis and improved long-term neurological prognosis. Furthermore, the downregulation of Sema 3A/NRP-1 expression and activation of the PI3K/Akt/mTOR signaling pathway played a key role in the protective effects of hPMSCs.
Article
Neurosciences
Emily L. Isenstein, Edward G. Freedman, Jiayi Xu, Ian A. DeAndrea-Lazarus, John J. Foxe
Summary: This study evaluated electrophysiological discrimination of parametric somatosensory stimuli in healthy young adults to understand how the brain processes the duration of tactile information. The results showed that participants did not electrophysiologically discriminate between 100 and 115 ms, but they exhibited distinct electrophysiological responses when the deviant stimuli were 130, 145, and 160 ms. These findings contribute to a better understanding of tactile sensitivity in different clinical conditions.
Article
Neurosciences
Juliana R. Souza, Ludmila Lima-Silveira, Daniela Accorsi-Mendonca, Benedito H. Machado
Summary: This study demonstrates that A2A receptors play a crucial role in modulating synaptic transmission in the NTS neurons and are required for the enhancement of glutamatergic transmission observed under short-term sustained hypoxia conditions.
Article
Neurosciences
Miki Hashizume, Rina Ito, Rie Suge, Yasushi Hojo, Gen Murakami, Takayuki Murakoshi
Summary: The basolateral amygdaloid complex (BLA) is closely involved in the formation of emotional memories, including both aversive memory and contextual fear memory. Acute sleep deprivation (SD) disrupts the acquisition of tone-associated fear memory in juvenile rats, but has no significant effect on contextual fear memory. Slow network oscillation in the amygdala contributes to the formation of amygdala-dependent fear memory in relation to sleep.
Article
Neurosciences
Qunxian Wang, Shipeng Guo, Dongjie Hu, Xiangjun Dong, Zijun Meng, Yanshuang Jiang, Zijuan Feng, Weihui Zhou, Weihong Song
Summary: GSDME plays a crucial role in the pathogenesis of Alzheimer's disease by regulating the switch from apoptosis to pyroptosis and participating in neuroinflammatory response. Knockdown of GSDME has been shown to improve cognitive impairments, indicating that GSDME could be a therapeutic target for Alzheimer's disease.
