Review
Pharmacology & Pharmacy
Roberta Bovenzi, Matteo Conti, Tommaso Schirinzi
Summary: Sydenham's chorea is the most common cause of acquired chorea in children. Recent evidence shows long-term neuropsychiatric and cognitive complications in adulthood, challenging the idea that it is a benign condition. Current treatment methods include antibiotics, symptomatic relief, and immunomodulation. Further research is needed to understand the pathophysiology and to develop appropriate therapeutic interventions.
EXPERT OPINION ON PHARMACOTHERAPY
(2023)
Article
Clinical Neurology
Marlous C. M. van Der Weijden, Dayana Rodriguez-Contreras, Catherine C. S. Delnooz, Brooks G. Robinson, Alec F. Condon, Michelle L. Kielhold, Gilles N. Stormezand, Kai Yu Ma, Claudia Dufke, John T. Williams, Kim A. Neve, Marina A. J. Tijssen, Dineke S. Verbeek
Summary: This study described a unique dominantly inherited clinical phenotype in a 4-generation Dutch pedigree, identifying a novel DRD2 gene variant as likely causative. Functional characterization of the variant revealed altered D2 receptor activity in cell models and mouse brain slices, supporting its association with the hyperkinetic movement disorder in the pedigree.
MOVEMENT DISORDERS
(2021)
Article
Multidisciplinary Sciences
Simone M. Braendle, Manuela Cerina, Susanne Weber, Kathrin Held, Amelie F. Menke, Carmen Alcala, David Gebert, Alexander M. Herrmann, Hannah Pellkofer, Lisa Ann Gerdes, Stefan Bittner, Frank Leypoldt, Bianca Teegen, Lars Komorowski, Tania Kuempfel, Reinhard Hohlfeld, Sven G. Meuth, Bonaventura Casanova, Nico Melzer, Eduardo Beltran, Klaus Dornmair
Summary: Encephalitis associated with antibodies against the neuronal GABA(A)-R is a rare form of autoimmune encephalitis. A study found a significantly expanded B cell clone in the cerebrospinal fluid of a patient with GABA(A)-R encephalitis, producing antibodies that likely contribute to clinical disease symptoms. Additionally, cross-reactivity between GABA(A)-R and the protein LMO5 was identified, supporting the hypothesis of a paraneoplastic etiology in GABA(A)-R encephalitis.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Clinical Neurology
Antonio L. Teixeira, Luiz P. Vasconcelos, Maria do Carmo Pereira Nunes, Harvey Singer
Summary: Sydenham's chorea is an autoimmune disorder associated with cognitive and behavioral symptoms. Treatment options are limited and often dependent on clinician's experience and patient's response to symptomatic therapy.
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2021)
Article
Clinical Neurology
Xi Chen, Piao Zhang, Lijuan Wang, Yuhu Zhang
Summary: Chorea-acanthocytosis is a rare neurodegenerative disorder caused by pathogenic variants of the VPS13A gene. This study identified two novel heterozygous VPS13A pathogenic variants in a patient with typical clinical manifestations of ChAc, expanding the variant spectrum of VPS13A. The identified variants are considered to be pathogenic and affect the function of the encoded protein.
Article
Clinical Neurology
Elisa Menozzi, Eoin Mulroy, Ladan Akbarian-Tefaghi, Kailash P. Bhatia, Bettina Balint
Summary: The recognition and characterization of movement disorders associated with systemic autoimmune diseases is an area that remains largely unexplored, beyond the classic associations such as chorea and antiphospholipid syndrome. However, these movement disorders are mostly treatable and can respond to immunotherapy or dietary modifications. Further research is needed to better understand the clinical features, diagnostic tools, and treatment outcomes in this field.
PARKINSONISM & RELATED DISORDERS
(2021)
Editorial Material
Clinical Neurology
Zeferino Demartini, Bernardo C. A. Teixeira, Adriane A. Cardoso-Demartini
Summary: Moyamoya disease typically presents with movement disorders, but cases without evident cerebral lesions or hypoperfusion have been reported. Symptom control with medications and cerebral revascularization surgery may be effective treatment options. Further research is needed to fully understand the relationship between moyamoya disease and movement disorders.
WORLD NEUROSURGERY
(2021)
Editorial Material
Clinical Neurology
Zeferino Demartini Jr, Thiago Calzada, Sandrieli Afornali
Summary: Although the underlying physiopathologic mechanisms of moyamoya angiopathy remain unclear, a case study of a 7-year-old with epilepsy, autism spectrum disorder, and delayed psychomotor development revealed a deletion of the 15q11.2 gene. The patient experienced sudden neurological deficits and neuroimaging studies showed cerebral infarctions, bilateral hypoperfusion, and intracranial carotid artery stenosis. Treatment with anticonvulsants and antiplatelets followed by cerebral revascularization surgery resulted in no seizures or ischemic events during the follow-up period. This is the first reported instance of moyamoya syndrome concurrent with 15q11.2 gene deletion.
WORLD NEUROSURGERY
(2023)
Article
Clinical Neurology
Roberta Bovenzi, Matteo Conti, Rocco Cerroni, Mariangela Pierantozzi, Alessandro Stefani, Antonio Pisani, Nicola Biagio Mercuri, Tommaso Schirinzi
Summary: The study retrospectively analyzed cases of adult-onset sporadic chorea from a single Italian center, identifying mainly female patients with a clinical presentation of acute-subacute onset. The most common cause of adult-onset sporadic chorea was cerebrovascular diseases, with a majority of cases showing mild clinical course and good response to treatment. Neuroimaging was crucial for diagnosis, along with clinical examination and routine laboratory tests.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Belen Perez-Duenas, Kathleen Gorman, Anna Marce-Grau, Juan D. Ortigoza-Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Paivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Summary: This study delineates the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders, highlighting the importance of comprehensive analysis in guiding physicians for genetic investigation, early diagnosis, precision treatment, and genetic counseling.
MOVEMENT DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Esther Garcia-Garcia, Nerea Chaparro-Cabanillas, Albert Coll-Manzano, Maria Carreras-Caballe, Albert Giralt, Daniel Del Toro, Jordi Alberch, Merce Masana, Manuel J. Rodriguez
Summary: Loss-of-function mutations in the VPS13A gene cause Chorea-acanthocytosis. The study reveals stable and widespread expression of VPS13A in the mouse brain, with the strongest profiles in the pons, hippocampus, and cerebellum. VPS13A is mainly located in neurons, co-localizing with the endoplasmic reticulum and mitochondria.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Pediatrics
Alberto Maria Cappellari, Greta Rogani, Giovanni Filocamo, Antonella Petaccia
Summary: This study aimed to examine the effectiveness of corticosteroid therapy for children with Sydenham chorea (SC). The results showed that corticosteroid therapy led to a faster resolution of SC compared to symptomatic treatment, especially for patients with arthritis.
Review
Infectious Diseases
Elena Cecilia Rosca, Raluca Bilavu, Amalia Cornea, Mihaela Simu
Summary: This study aims to synthesize the clinical and paraclinical characteristics, treatment responses, and outcomes of chorea following SARS-CoV-2 infection and vaccination. The results show that chorea can occur before or after COVID-19 symptoms, and it may have different pathogenic mechanisms. Furthermore, cerebrospinal fluid abnormalities are more common in vaccinated cases compared to infected individuals.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2023)
Article
Clinical Neurology
Alberto Vogrig, Antoine Pegat, Macarena Villagran-Garcia, Valentin Wucher, Valery Attignon, Emilie Sohier, Marie Brevet, Veronique Rogemond, Anne-Laurie Pinto, Sergio Muniz-Castrillo, Elise Peter, Melisse Robert, Geraldine Picard, Lucie Hopes, Dimitri Psimaras, Anthony Terra, Corinne Perrin, Dominique Cogne, Severine Tabone-Eglinger, Severine Martinez, Delphine Jury, Julie Valantin, Nicolas Gadot, Jessie Auclair-Perrossier, Alain Viari, Bertrand Dubois, Virginie Desestret, Jerome Honnorat
Summary: The genomic and transcriptomic features of small-cell lung cancer (SCLC) differ between different paraneoplastic neurological syndromes (PNS) subtypes, and the role of KCTD16 appears to be pivotal in anti-GABABR PNS tumor immune tolerance breakdown.
ANNALS OF NEUROLOGY
(2023)
Review
Medicine, General & Internal
Giacomo Garone, Federica Graziola, Melissa Grasso, Alessandro Capuano
Summary: Acute-onset movement disorders (MDs) are increasingly recognized as neurological emergencies in both adults and children, with a wide range of possible causes and challenging diagnostic work-up. The key to treatment lies in recognizing the underlying disorder and the diagnostic approach relies on defining the overall clinical syndrome and recognizing the prominent MD phenomenology.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Clinical Neurology
Hannah F. Jones, Marion Stoll, Gladys Ho, Dugald O'Neill, Velda X. Han, Simon Paget, Kirsty Stewart, Jennifer Lewis, Kavitha Kothur, Christopher Troedson, Yanick J. Crow, Russell C. Dale, Shekeeb S. Mohammad
Summary: This study reports three cases of spastic paraplegia or cerebral palsy caused by the ADAR c.3019G>A variant, which has incomplete penetrance and can mimic other diseases. A high level of clinical suspicion is required for diagnosis and treatment of this condition, which may be ameliorated by immunomodulatory therapy.
BRAIN & DEVELOPMENT
(2022)
Review
Clinical Neurology
Nicolette Soler, Reinie Cordier, Iain E. Perkes, Russell C. Dale, Paula Bray
Summary: This study evaluated the quality and utility of proxy-reported sensory measures for children and adolescents with neurodevelopmental disorders. Only one measure met the criteria for good measurement properties.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Clinical Neurology
Davide Martino, Tammy Hedderly, Tara Murphy, Kirsten R. Mueller-Vahl, Russell C. Dale, Donald L. Gilbert, Renata Rizzo, Andreas Hartmann, Peter Nagy, Mathieu Anheim, Tamsin Owen, Osman Malik, Morvwen Duncan, Isobel Heyman, Holan Liang, Andrew McWilliams, Shauna O'Dwyer, Carolin Fremer, Natalia Szejko, Velda X. Han, Kasia Kozlowska, Tamara M. Pringsheim
Summary: There has been a significant increase in adolescents and young adults seeking urgent help for functional tic-like behaviors (FTLBs) between 2019 and 2022. An international collaborative group collected retrospective data to better understand this spectrum and its clinical differences from primary tic disorders. The study findings suggest that social media exposure may be a relevant contributing factor to FTLBs.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Belen Perez-Duenas, Kathleen Gorman, Anna Marce-Grau, Juan D. Ortigoza-Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Paivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Summary: This study delineates the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders, highlighting the importance of comprehensive analysis in guiding physicians for genetic investigation, early diagnosis, precision treatment, and genetic counseling.
MOVEMENT DISORDERS
(2022)
Review
Neurosciences
Shrujna Patel, Brooke A. Keating, Russell C. Dale
Summary: Mental health and neurodevelopmental disorders are common and complex conditions that affect wellbeing. There is evidence suggesting a role of maternal inflammation in these disorders, and it is now known that commonly used psychiatric drugs have anti-inflammatory properties. This review summarizes the human evidence of the anti-inflammatory mechanisms of psychiatric drugs and highlights the potential therapeutic implications.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Cell Biology
Marianna Spatola, Omar Chuquisana, Wonyeong Jung, Joseph A. Lopez, Eva-Maria Wendel, Sudarshini Ramanathan, Christian W. Keller, Tim Hahn, Edgar Meinl, Markus Reindl, Russell C. Dale, Heinz Wiendl, Douglas A. Lauffenburger, Kevin Rostasy, Fabienne Brilot, Galit Alter, Jan D. Luenemann
Summary: Using a systems-level approach, we investigated humoral immune responses in 123 patients with MOGAD. Our study revealed that age is a significant factor in determining MOG-antibody-related immune signatures. Moreover, we identified two dominant immunological endophenotypes of MOGAD, with the pro-inflammatory endophenotype associated with clinically active disease. Our findings suggest that FcyR-mediated effector functions control the pathogenicity of MOG-specific IgG and highlight the potential of FcyR-targeting therapies in treating MOGAD.
CELL REPORTS MEDICINE
(2023)
Review
Clinical Neurology
Katarina Ostojic, Isra P. Karem, Simon P. Paget, Alison Berg, Betty-Jean Dee-Price, Raghu C. Lingam, Russell C. Dale, Valsamma Eapen, Sue Woolfenden
Summary: Social determinants of health (SDH) have both positive and negative impacts on health and social outcomes. Understanding how SDH affects children with cerebral palsy (CP) is crucial for improving health equity, optimizing health outcomes, and supporting their families. This review examines the impact of SDH on CP children globally. In high-income countries, socioeconomic disadvantage is associated with more severe comorbidities, spastic bilateral CP, and reduced community participation. In low- and middle-income countries, socioeconomic disadvantage is linked to malnutrition, poor housing conditions, lack of sanitation, and poverty.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Review
Clinical Neurology
Sudarshini Ramanathan, Fabienne Brilot, Sarosh R. Irani, Russell C. Dale
Summary: This article reviews the key pathogenic mechanisms underlying the development of autoimmune diseases in the central nervous system, including non-modifiable risk factors, interactions between environmental factors and epigenetics, disease mechanisms associated with the loss of immune tolerance, the role of neuroimmune interfaces, and novel therapeutic approaches based on the immunopathogenesis.
NATURE REVIEWS NEUROLOGY
(2023)
Article
Medicine, General & Internal
Catherine Morgan, Nadia Badawi, Roslyn N. Boyd, Alicia J. Spittle, Russell C. Dale, Adrienne Kirby, Rod W. Hunt, Koa Whittingham, Kerstin Pannek, Rachael L. Morton, William Tarnow-Mordi, Michael C. Fahey, Karen Walker, Kristina Prelog, Catherine Elliott, Jane Valentine, Andrea Guzzetta, Shannon Olivey, GAME Study Team, Iona Novak
Summary: This is a randomized controlled trial on early intervention for cerebral palsy (CP) children. The trial aims to investigate the efficacy of an early and sustained Goals-Activity-Motor Enrichment approach on improving motor and cognitive skills in infants with suspected or confirmed CP. The study requires 150 participants per group and the outcomes will be disseminated through peer-reviewed journal publications, international conferences, and consumer websites.
Article
Medicine, General & Internal
Katarina Ostojic, Simon Paget, Tanya Martin, Betty-Jean Dee-Price, Sarah McIntyre, Hayley Smithers Sheedy, Laurel Mimmo, Heather Burnett, Timothy Scott, Alison Berg, Anne Masi, Michele Scarcella, Jack Calderan, Sheikh Azmatullah, Masyitah Mohamed, Mackenzie Woodbury, Alunya Wilkinson, Karen Zwi, Russell Dale, Valsamma Eapen, Raghu Lingam, Iva Strnadova, Susan Woolfenden
Summary: This study aims to codesign a social prescribing programme, in order to address social determinants of health concerns faced by children with cerebral palsy and their families in Australia. The study will involve young adults with cerebral palsy, parents/caregivers of children with cerebral palsy, and clinicians in the design process, and will be guided by the biopsychosocial ecological framework.
Article
Clinical Neurology
Susanna Asseyer, Nasrin Asgari, Jeffrey Bennett, Omer Bialer, Yolanda Blanco, Francesca Bosello., Anna Camos-Carreras., Edgar Carnero Contentti., Sara Carta, John Chen, Claudia Chien, Mashina Chomba, Russell C. Dale, Josep Dalmau, Kristina Feldmann, Eoin P. Flanagan, Caroline Froment Tilikete, Carolina Garcia-Alfonso, Joachim Havla, Mark Hellmann, Ho Jin Kim, Philipp Klyscz, Frank Konietschke, Chiara La Morgia, Marco Lana-Peixoto, Maria Isabel Leite, Netta Levin, Michael Levy, Sara Llufriu, Pablo Lopez, Itay Lotan, Alessandra Lugaresi, Romain Marignier, Sara Mariotto, Susan P. Mollan, Cassandra Ocampo, Frederike Cosima Oertel, Maja Olszewska, Jacqueline Palace, Lekha Pandit, Jose Luis Peralta Uribe, Sean Pittock, Sudarshini Ramanathan, Natthapon Rattanathamsakul, Albert Saiz, Sara Samadzadeh, Bernardo Sanchez-Dalmau, Deanna Saylor, Michael Scheel, Tanja Schmitz-Huebsch, Jemal Shifa, Sasitorn Siritho, Pia S. Sperber, Prem S. Subramanian, Alon Tiosano, Adi Vaknin-Dembinsky, Alvaro Jose Mejia Vergara, Adi Wilf-Yarkoni, Luis Alfonso Zarco, Hanna G. Zimmermann, Friedemann Paul, Hadas Stiebel-Kalish
Summary: This is a global study aimed at investigating the effect of early high-dose corticosteroid treatment on optic neuritis. The study will collect various data to evaluate treatment strategies and the accuracy of diagnostic criteria.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Russell C. Dale, Terrence Thomas, Shrujna Patel, Velda X. Han, Kavitha Kothur, Christopher Troedson, Sachin Gupta, Deepak Gill, Stephen Malone, Michaela Waak, Sophie Calvert, Gopinath Subramanian, P. Ian Andrews, Tejaswi Kandula, Manoj P. Menezes, Simone Ardern-Holmes, Shekeeb Mohammad, Sushil Bandodkar, Jingya Yan
Summary: Infection-triggered encephalopathy syndromes (ITES) are potentially devastating neuroinflammatory conditions. CSF neopterin and quinolinic acid are neuroinflammatory and excitotoxic metabolites that can differentiate ITES from other causes of seizures.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Medicine, General & Internal
Jingya Yan, Kavitha Kothur, Shekeeb Mohammad, Jason Chung, Shrujna Patel, Hannah F. Jones, Brooke A. Keating, Velda X. Han, Richard Webster, Simone Ardern-Holmes, Jayne Antony, Manoj P. Menezes, Esther Tantsis, Deepak Gill, Sachin Gupta, Tejaswi Kandula, Hugo Sampaio, Michelle A. Farrar, Christopher Troedson, P. Ian Andrews, Sekhar C. Pillai, Benjamin Heng, Gilles J. Guillemin, Anna Guller, Sushil Bandodkar, Russell C. Dale
Summary: CSF metabolites, including neopterin, quinolinic acid, and KYN/TRP, were found to be useful biomarkers for the diagnosis and monitoring of neuroinflammation. These findings provide insights into the role of inflammatory metabolism in neurological disorders and offer opportunities for improved management of these diseases.
Review
Clinical Neurology
Tamara Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi-Fakhari, Jennifer Friedman, Jean-Pierre Lin, Jonathan Mink, Alexander Munchau, Daniela Munoz, Nardo Nardocci, Belen Perez-Duenas, Zomer Sardar, Chahnez Triki, Hilla Ben-Pazi, Laura Silveira-Moriyama, Monica Troncoso-Schifferli, Kyoko Hoshino, Russell C. Dale, Victor S. C. Fung, Manju A. Kurian, Emmanuel Roze
Summary: The International Parkinson and Movement Disorders Society (MDS) established a working group to provide recommendations for the transition process from pediatric to adult healthcare systems for patients with childhood-onset movement disorders. Through a multi-round, web-based Delphi survey, the group developed recommendations related to team composition and structure, planning and readiness, goals of care, and administration and research.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Health Care Sciences & Services
Chathurini Fernando, Sarah Osborn, Malcolm Horne
Summary: Orthostatic hypotension is common but often unrecognized in Parkinson's Disease (PD). This study found that multiple home blood pressure measurements are more sensitive in detecting orthostatic hypotension, blood pressure variability, and hypertension than a single in clinic measurement.
JOURNAL OF PERSONALIZED MEDICINE
(2023)