Review
Medicine, General & Internal
Maja Rogic Vidakovic, Ivana Gunjaca, Josipa Bukic, Vana Kosta, Josko Soda, Ivan Konstantinovic, Braco Boskovic, Irena Bilic, Nikolina Rezic Muzinic
Summary: This narrative review provides a summary of the patho-neuro-physiological and genetic background of focal laryngeal dystonia (LD), as well as the standard treatment options and potential future therapies. It also presents two LD cases and discusses the diagnostic procedures and achievements in treatment.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Clinical Neurology
Costanza Gianni, Gabriele Pasqua, Gina Ferrazzano, Silvia Tommasin, Maria Ilenia De Bartolo, Nikolaos Petsas, Daniele Belvisi, Antonella Conte, Alfredo Berardelli, Patrizia Pantano
Summary: This study aimed to investigate structural damage and resting-state functional alterations in patients with cervical dystonia (CD) and blepharospasm (BSP) by examining whole-brain and seed-based approaches. The results showed that both CD and BSP patients exhibited altered connectivity in specific circuits, such as the cerebellum, basal ganglia, and cerebral cortex, suggesting that focal dystonia involves specific network abnormalities rather than just basal ganglia alterations.
Article
Clinical Neurology
Giovanni Fabbrini, Antonella Conte, Gina Ferrazzano, Marcello Esposito, Alberto Albanese, Roberta Pellicciari, Francesca Di Biasio, Francesco Bono, Roberto Eleopra, Tommaso Ercoli, Maria Concetta Altavista, Alfredo Berardelli, Giovanni Defazio
Summary: Italian neurologists tend to use MRI to assist in the diagnosis of idiopathic adult-onset focal dystonia, especially in patients with cervical dystonia, spasmodic dysphonia, or non-task-specific upper limb dystonia. However, MRI may be less likely to be used in patients with blepharospasm or task-specific upper limb dystonia.
NEUROLOGICAL SCIENCES
(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)
Article
Clinical Neurology
Peter Bede, Rangariroyashe H. Chipika, Foteini Christidi, Jennifer C. Hengeveld, Efstratios Karavasilis, Georgios D. Argyropoulos, Jasmin Lope, Stacey Li Hi Shing, Georgios Velonakis, Leonie Dupuis, Mark A. Doherty, Alice Vajda, Russell L. McLaughlin, Orla Hardiman
Summary: In ALS, cerebellar pathology is mainly localized to lobules I-V of the anterior lobe in sporadic cases, while C9orf72 mutation carriers show significant involvement of the posterior lobe and vermis. Patients with intermediate ATXN2 expansions do not exhibit notable cerebellar pathology.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Clinical Neurology
Joachim Mazere, Bixente Dilharreguy, Gwenaelle Catheline, Marie Vidailhet, Marc Deffains, Delphine Vimont, Bastien Ribot, Elodie Barse, Laura Cif, Bernard Mazoyer, Nicolas Langbour, Antonio Pisani, Michele Allard, Frederic Lamare, Dominique Guehl, Philippe Fernandez, Pierre Burbaud
Summary: Early-onset torsion dystonia (DYT1) patients show disrupted cholinergic system in the putamen and cerebellar vermis, with changes occurring with age. Functional connectivity within the motor network and interregional correlation of cholinergic expression are altered in patients, indicating plasticity or compensatory mechanisms over time.
Article
Biochemistry & Molecular Biology
Andras Salamon, Zsofia Flora Nagy, Margit Pal, Mate Szabo, Adam Csosz, Laszlo Szpisjak, Gabriella Gardian, Denes Zadori, Marta Szell, Peter Klivenyi
Summary: This study investigated 121 patients and identified 209 different heterozygous variants in 24 genes, with nine of them confirmed to have clinical and genetic validity. Detailed genetic examination is crucial in understanding the causes of movement disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Kahori Kita, Shinichi Furuya, Rieko Osu, Takashi Sakamoto, Takashi Hanakawa
Summary: The study suggests that abnormal cerebellar activity and cerebello-cortical connectivity may play a role in the neuropathophysiology of musician's dystonia. Pianists with FTSD showed greater activation of the right cerebellum during the task, and those who reported dystonic symptoms demonstrated greater cerebellar activation, indicating a link between cerebellar activity and overt dystonic symptoms. Additionally, there were differences in the task-related effective connectivity between the right cerebellum and left premotor/somatosensory cortex between dystonic and healthy pianists.
Article
Clinical Neurology
Renata Proa, Joana Balardin, Danilo D. de Faria, Artur M. Paulo, Joao R. Sato, Carlos A. Baltazar, Vanderci Borges, Sonia M. C. Azevedo Silva, Henrique B. Ferraz, Patricia de Carvalho Aguiar
Summary: Using fNIRS, this study compared cortical brain activation between patients with focal upper-limb dystonia and controls during a writing task under naturalistic conditions. The results suggest that patients with dystonia exhibit increased activation in contralateral M1 and S1 cortices, as well as ipsilateral M1 cortex, indicating reduced specificity of task-related cortical areas.
NEUROREHABILITATION AND NEURAL REPAIR
(2021)
Article
Clinical Neurology
Linyan Meng, Pirjo Isohanni, Yunru Shao, Brett H. Graham, Scott E. Hickey, Stephanie Brooks, Anu Suomalainen, Pascal Joset, Katharina Steindl, Anita Rauch, Annette Hackenberg, Frances A. High, Amy Armstrong-Javors, Niccolo E. Mencacci, Paulina Gonzalez-Latapi, Walaa A. Kamel, Jasem Y. Al-Hashel, Bernabe Bustos, Alejandro Hernandez, Dimitri Krainc, Steven J. Lubbe, Hilde Van Esch, Chiara De Luca, Katleen Ballon, Claudia Ravelli, Lydie Burglen, Leila Qebibo, Daniel G. Calame, Tadahiro Mitani, Dana Marafi, Davut Pehlivan, Nebal W. Saadi, Yavuz Sahin, Reza Maroofian, Stephanie Efthymiou, Henry Houlden, Shazia Maqbool, Fatima Rahman, Shen Gu, Jennifer E. Posey, James R. Lupski, Jill Hunter, Michael F. Wangler, Christopher J. Carroll, Yaping Yang
Summary: This study identified a novel neurodevelopmental syndrome characterized by highly homogeneous patient phenotypes including intellectual disability, movement disorders, and cerebellar hypoplasia. The identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development.
ANNALS OF NEUROLOGY
(2021)
Review
Rehabilitation
Arne Hautekiet, Katrien Raes, Sybille Geers, Patrick Santens, Kristine Oostra
Summary: While it seems that many patients with task-specific dystonia may benefit from rehabilitation therapy, conclusive evidence is lacking. Further research in this field is necessary, utilizing standardized methods and well-defined outcome measures in larger cohorts of clinically and diagnostically characterized patients with task-specific dystonia.
EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE
(2021)
Article
Clinical Neurology
Tina Mainka, Elena Azanon, Kirsten E. Zeuner, Arne Knutzen, Tobias Baeumer, Wolf-Julian Neumann, Friederike Borngraeber, Andrea A. Kuehn, Matthew R. Longo, Christos Ganos
Summary: This study assessed tactile space organization in patients with isolated focal dystonia and controls using a novel behavioral paradigm. The results showed that there were no significant differences in tactile space organization between the dystonia patients and healthy controls.
MOVEMENT DISORDERS
(2021)
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
Neurosciences
Takashi Asahi, Kiyonobu Ikeda, Jiro Yamamoto, Hiroyuki Tsubono, Yuko Muro, Shuji Sato
Summary: Limited studies have been conducted on stereotactic and functional neurosurgery for lingual dystonia. This case report demonstrates the effectiveness of bilateral GPi-DBS in improving symptoms of primary lingual dystonia. Placing the directional part of the lead in the GPi bottom has shown to enhance stimulation effects.
STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
(2021)
Article
Clinical Neurology
Shiro Horisawa, Kotaro Kohara, Taku Nonaka, Tatsuki Mochizuki, Takakazu Kawamata, Takaomi Taira
Summary: The case report describes a 35-year-old male patient who underwent deep cerebellar stimulation for tremor and dystonia, with almost complete resolution of symptoms at the 6-month follow-up.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunit, Hector Garcia-Moreno, Nita Solanky, Thomas Klockgether, Kathrin Reetz, Bart P. van de Warrenburg, Magda M. Santana, Patrick Silva, Ines Cunha, Luis Pereira de Almeida, Dagmar Timmann, Jon Infante, Jeroen de Vries, Manuela Lima, Paula Pires, Khalaf Bushara, Heike Jacobi, Chiadi Onyike, Jeremy D. Schmahmann, Jeannette Hubener-Schmid, Matthis Synofzik, Ludger Schoels
Summary: This study reveals that non-motor symptoms such as sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction, and pallhypesthesia are common among SCA3 patients and are significantly associated with disease severity and daily activities. Lifestyle factors like alcohol consumption, smoking, and physical activity may also be related to non-motor symptoms.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Roderick P. P. W. M. Maas, Bart P. C. van de Warrenburg
Summary: This study retrospectively investigated the expectations of benefit in patients with degenerative cerebellar ataxias and identified factors that could lead to therapeutic misestimation. The results showed that patients had high expectations of treatment effectiveness, but these expectations were not related to the type of intervention or clinical and demographic characteristics.
MOVEMENT DISORDERS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
N. Chan, N. Sibtain, T. Booth, P. de Souza, S. Bibby, Y. -h. Mah, J. Teo, J. M. U-King-Im
Summary: This study aimed to evaluate the clinical performance of a commercially available machine learning algorithm in acute stroke. The results showed that the algorithm had high sensitivity and negative predictive value but poor specificity and positive predictive value for the detection of acute ischemic parenchymal changes.
CLINICAL RADIOLOGY
(2023)
Article
Clinical Neurology
Melinda B. Roaldsen, Agnethe Eltoft, Tom Wilsgaard, Hanne Christensen, Stefan T. Engelter, Bent Indredavik, Dalius Jatuzis, Guntis Karelis, Janika Korv, Erik Lundstrom, Jesper Petersson, Jukka Putaala, Mary-Helen Soyland, Arnstein Tveiten, Andrew Bivard, Stein Harald Johnsen, Michael Mazya, David J. Werring, Teddy Y. Wu, Gian Marco De Marchis, Thompson G. Robinson, Ellisiv B. Mathiesen
Summary: This study aimed to determine whether intravenous thrombolysis with tenecteplase within 4-5 hours of awakening could improve functional outcome in patients with ischaemic wake-up stroke selected with non-contrast CT. The results showed that treatment with tenecteplase was not associated with better functional outcome at 90 days, and the bleeding complications were similar between the treatment groups.
Review
Clinical Neurology
Malco Rossi, Moath Hamed, Jon Rodriguez-Antiguedad, Mario Cornejo-Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, Bart P. van de Warrenburg
Summary: This article systematically reviewed the genotype-phenotype relationships and reevaluated the pathological range of repeat expansions in ATX-TBP. The study proposed new cutoff values for reduced penetrance (41-45 expanded repeats) and full penetrance (46-66 expanded repeats), which have important diagnostic and counseling implications and may guide future clinical trial protocols.
MOVEMENT DISORDERS
(2023)
Article
Computer Science, Interdisciplinary Applications
Thomas Searle, Zina Ibrahim, James Teo, Richard J. B. Dobson
Summary: Brief Hospital Course (BHC) summaries, written by senior clinicians, are embedded within discharge summaries to provide a concise overview of an entire hospital encounter. Automating the production of these summaries from inpatient documentation can relieve clinicians of the manual burden. We demonstrate different methods for BHC summarization using deep learning summarization models, including a novel ensemble model that incorporates a medical concept ontology and outperforms in real-world clinical datasets.
JOURNAL OF BIOMEDICAL INFORMATICS
(2023)
Article
Clinical Neurology
Pierre-Emmanuel Sugier, Elise A. Lucotte, Cloe Domenighetti, Matthew H. Law, Mark M. Iles, Kevin Brown, Christopher Amos, James D. McKay, Rayjean J. Hung, Mojgan Karimi, Delphine Bacq-Daian, Anne Boland-Auge, Robert Olaso, Jean-francois Deleuze, Fabienne Lesueur, Evgenia Ostroumova, Ausrele Kesminiene, Florent de Vathaire, Pascal Guenel, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Patrick May, Dheeraj R. Bobbili, Milena Radivojkov-Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena G. Hernandez, Connor Edsall, George D. Mellick, Alexander Zimprich, Walter Pirker, Ekaterina Rogaeva, Anthony E. Lang, Sulev Koks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, Marie-Christine Chartier-Harlin, Eugenie Mutez, Kathrin Brockmann, Angela B. Deutschlaender, Georges M. Hadjigeorgiou, Efthimios Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Akiyoshi Nakayama, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Pierre Kolber, Bart P. C. van de Warrenburg, Bastiaan R. Bloem, Jan Aasly, Mathias Toft, Lasse Pihlstrom, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Monica Diez-Fairen, Karin Wirdefeldt, Nancy Pedersen, Caroline Ran, Andrea C. Belin, Andreas Puschmann, Emil Ygland Roedstroem, Carl E. Clarke, Karen E. Morrison, Manuela Tan, Dimitri Krainc, Lena F. Burbulla, Matt J. Farrer, Rejko Kruger, Thomas Gasser, Manu Sharma, Therese Truong, Alexis Elbaz
Summary: By using genome-wide association studies, this study found that Parkinson's disease (PD) is genetically correlated with melanoma and prostate cancer, while it is inversely correlated with ovarian cancer. These findings suggest that pleiotropic genes contribute to the association between PD and specific cancers.
MOVEMENT DISORDERS
(2023)
Letter
Clinical Neurology
Andreas Traschuetz, Astrid D. Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bjoern H. Falkenburger, Janina Gburek-Augustat, Sarah Doss, Christoph Kamm, Peter Klivenyi, Marcus Grobe-Einsler, Thomas Klopstock, Martina Minnerop, Alexander Muenchau, Chiara Pane, Mathilde Renaud, Filippo M. Santorelli, Ludger Schoels, Dagmar Timmann, Stefan Vielhaber, Tobias B. Haack, Bart P. van de Warrenburg, Ginevra Zanni, Matthis Synofzik
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Magda M. Santana, Laetitia S. Gaspar, Maria M. Pinto, Patrick Silva, Diana Adao, Dina Pereira, Joana Afonso Ribeiro, Ines Cunha, Jeannette Huebener-Schmid, Mafalda F. Raposo, Ana F. Ferreira, Jennifer Faber, Sandra Kuhs, Hector Garcia-Moreno, Kathrin Reetz, Andreas Thieme, Jon Infante, Bart P. C. van de Warrenburg, Paola Giunti, Olaf Riess, Ludger Schoels, Manuela Lima, Thomas Klockgether, Cristina Januario, Luis Pereira de Almeida
Summary: The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) aims to establish the largest European trial-ready cohort for Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), a common inherited ataxia. ESMI has focused on identifying biomarkers for SCA3/MJD to facilitate future intervention studies. To ensure accurate biomarker outcomes, ESMI standardized biosampling procedures. This consensus protocol may also be applicable to other neurodegenerative disorders, particularly ataxias, and marks the first step towards protocol harmonization in this field.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Laurie M. C. Kerkhof, Bart P. C. van de Warrenburg, Willeke M. C. van Roon-Mom, Ronald A. M. Buijsen
Summary: Spinocerebellar ataxia type 1 (SCA1) is a rare neurodegenerative disorder caused by an extended CAG repeat in the ATXN1 gene, leading to loss of cerebellar Purkinje cells and coordination issues. Currently, no cure exists for SCA1, but various therapeutic strategies are being investigated, including genetic, pharmacological, and cell replacement therapies that target the underlying disease mechanisms or aim to restore lost cells. This review provides a summary of these different therapeutic strategies for SCA1.
Article
Health Care Sciences & Services
Joshua Au Yeung, Zeljko Kraljevic, Akish Luintel, Alfred Balston, Esther Idowu, Richard J. J. Dobson, James T. T. Teo
Summary: As large language models (LLMs) advance, conversational AI, or chatbots, also improve in their natural language processing capabilities. OpenAI's ChatGPT and healthcare-specific LLMs like GatorTron have achieved human-like text generation and question-answering, paving the way for future development of Conversational AI in the healthcare industry. This article compares the performance of ChatGPT and Foresight, a GPT-based model focused on patient and disorder modeling, for forecasting relevant diagnoses based on clinical vignettes, and discusses considerations and limitations of transformer-based chatbots for clinical use.
FRONTIERS IN DIGITAL HEALTH
(2023)
Letter
Clinical Neurology
Duncan Austin, John Rothwell
CLINICAL NEUROPHYSIOLOGY
(2023)
Review
Clinical Neurology
Anna Latorre, Daniele Belvisi, John C. Rothwell, Kailash P. Bhatia, Lorenzo Rocchi
Summary: Cortical myoclonus is a result of abnormal electrical discharges in the sensorimotor cortex. Electrophysiological criteria for diagnosing cortical myoclonus have been proposed, but their application can be challenging. Combining observations from multiple tests is necessary to increase the diagnostic accuracy of cortical myoclonus. Further research is needed to standardize methods, resolve methodological issues, establish diagnostic criteria sensitivity and specificity, and develop additional methods to clarify the pathophysiology of myoclonus.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Francesca Ginatempo, Nicola Loi, John C. Rothwell, Franca Deriu
Summary: This study comprehensively investigated sensorimotor integration in the cranial-cervical muscles of healthy adults and found that the integration of sensory inputs with motor output is profoundly influenced by the type of sensory afferent involved and the functional role played by the target muscle.
CLINICAL NEUROPHYSIOLOGY
(2024)
Article
Health Care Sciences & Services
Joe Zhang, Jack Gallifant, Robin L. Pierce, Aoife Fordham, James Teo, Leo Celi, Hutan Ashrafian
Summary: This study aimed to measure the factors associated with digital utilization across primary care providers in England. The results show a significant association between increased population deprivation and reduced digital utilization. These findings are concerning as they suggest potential healthcare inequalities driven by technology. Targeted interventions are needed to prevent digital disparities from translating into disparities in health outcomes.
BMJ HEALTH & CARE INFORMATICS
(2023)