Letter
Medicine, General & Internal
Yi-Heng Zeng, Shi-Rui Gan, Wan-Jin Chen
Summary: Pellerin et al. reported a dominant FGF14 GAA repeat expansion in individuals with late-onset cerebellar ataxia. They also identified individuals who were homozygous or compound heterozygous for expansions of at least 250 GAA repeats (GAA>=250), suggesting codominance at this locus. Here, we present two siblings from a consanguineous Chinese family with early-onset cerebellar ataxia who carried biallelic FGF14 GAA repeat expansions. One sibling initially presented with episodic gait imbalance at 21 years of age and subsequently developed progressive dysarthria, postural tremor, spasticity, and downbeat nystagmus...
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Clinical Neurology
Adriana P. Rebelo, Ilse Eidhof, Vivian P. Cintra, Lena Guillot-Noel, Claudia Pereira, Dagmar Timmann, Andreas Traschutz, Ludger Schols, Giulia Coarelli, Alexandra Durr, Mathieu Anheim, Christine Tranchant, Bart van de Warrenburg, Claire Guissart, Michel Koenig, Jack Howell, Carlos T. Moraes, Annette Schenck, Giovanni Stevanin, Stephan Zuechner, Matthis Synofzik
Summary: PRDX3, a protective antioxidant enzyme, may cause cerebellar ataxia and other neurodegenerative diseases through recessive mutations, primarily related to oxidative stress.
Review
Clinical Neurology
Santiago Perez-Lloret, Bart van de Warrenburg, Malco Rossi, Carmen Rodriguez-Blazquez, Theresa Zesiewicz, Jonas A. M. Saute, Alexandra Durr, Masatoyo Nishizawa, Pablo Martinez-Martin, Glenn T. Stebbins, Anette Schrag, Matej Skorvanek
Summary: This study evaluated the clinimetric properties of various ataxia rating scales and functional tests, identifying recommended scales and tests for patients with major hereditary ataxias and other cerebellar disorders. However, the main limitations of these instruments include limited assessment of patients on the severe end of the spectrum and children. Further research is needed in these populations.
MOVEMENT DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D'Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni
Summary: Pathogenic variants in the ITPR1 gene are associated with autosomal dominant spinocerebellar ataxia. Superior vermian and hemispheric cerebellar atrophy on MRI can be a distinguishing feature of ITPR1-related disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Mariana Santos, Joana Damasio, Susana Carmona, Joao Luis Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, Jose Barros, Jose Bras, Jorge Sequeiros, Rita Guerreiro
Summary: This study performed whole-exome sequencing on families with hereditary cerebellar ataxia (HCA) to identify causal genes and discovered novel pathogenic variants associated with different clinical syndromes. It also highlighted the importance of distinguishing between autosomal dominant and autosomal recessive forms, and proposed common molecular pathways underlying cerebellar neurodegeneration.
Review
Clinical Neurology
Giulia Coarelli, Thomas Wirth, Christine Tranchant, Michel Koenig, Alexandra Durr, Mathieu Anheim
Summary: This narrative review provides an update on the management of inherited cerebellar ataxias (ICAs), including main clinical entities, genetic analysis strategies, and recent therapeutic developments. It offers support for diagnosis, genetic counseling, and therapeutic management of ICAs in clinical practice.
JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Qing Zhang, Xihui Zhou, Yajun Li, Xiaodong Yang, Qammer H. Abbasi
Summary: Ataxia is an external characteristic of poor coordination and balance disorder in the human body, which may be caused by various internal factors. The diagnosis relies on observed external characteristics and the personal clinical experience of doctors. This study introduces a novel non-contact sensing technique for detecting and distinguishing different types of ataxia, achieving high accuracies through the use of Romberg's test, gait analysis data, and machine learning approaches.
FRONTIERS IN HUMAN NEUROSCIENCE
(2021)
Review
Clinical Neurology
Liu Mange, Ren Haitao, Zhou Lixin, Fan Siyuan, Wang Jing, Guan Hongzhi
Summary: This case report highlights a 47-year-old male patient with AP3B2 antibody presenting with insidious-onset symptoms of paresthesia and gait disturbance. Treatment with intravenous immunoglobulin, oral prednisone, and mycophenolate mofetil resulted in symptom improvement, with no evidence of malignancy during long-term follow-up. The review of literature suggests a diverse range of neurological symptoms associated with AP3B2 antibody, emphasizing the need for immunotherapy for potential clinical improvement.
JOURNAL OF NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Maria S. Protasova, Tatiana V. Andreeva, Sergey A. Klyushnikov, Sergey N. Illarioshkin, Evgeny I. Rogaev
Summary: In this study, a new homozygous missense mutation in the GRM1 gene was identified in a patient from a family of Azerbaijani origin with congenital cerebellar ataxia. The mutation affects the transmembrane domain 7, which is critical for ligand binding and receptor activity modulation. This is the first report of a mutation in this region causing a congenital autosomal recessive form of cerebellar ataxia without obvious intellectual disability.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Clinical Neurology
Joao Lemos, Mario Manto
Summary: Significant therapeutic advances have been made in the treatment of episodic and progressive cerebellar ataxias, downbeat nystagmus, and some vestibular disorders. Recent research findings have highlighted the positive effects of certain medications and treatments on symptom improvement and quality of life in patients.
CURRENT OPINION IN NEUROLOGY
(2022)
Article
Clinical Neurology
Chi-Ying R. Lin, Nadia Amokrane, Serena Chen, Tiffany X. Chen, Ruo-Yah Lai, Paula Trinh, Michael J. Minyetty, Haidyn Emmerich, Ming-Kai Pan, Daniel O. Claassen, Sheng-Han Kuo
Summary: This study describes the development and validation of a new scale (CIA) to assess impulsive and compulsive behaviors (ICBs) in cerebellar ataxia patients. The findings show that patients with ICBs have three times higher total CIA scores than those without ICBs, and CIA demonstrates good internal consistency across all items.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Neurosciences
Liansheng Chang, Shahid Hussain Soomro, Hongfeng Zhang, Hui Fu
Summary: Ankfy1 protein plays a critical role in the development and maintenance of Purkinje cells in the cerebellum. Its absence leads to loss of most Purkinje cells in the cerebellum, resulting in impaired motor function.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Behavioral Sciences
Simona Karamazovova, Veronika Matuskova, Natalie Svecova, Martin Vyhnalek
Summary: Social cognition plays a crucial role in successful social communication and interpersonal relationships, and the cerebellum is important in social cognition. Individuals with cerebellar ataxias commonly exhibit significant impairments in emotion recognition and theory of mind, independent of motor disability, general cognitive deficits, or neuropsychiatric symptoms. The severity of these social cognitive impairments can be comparable to autism or schizophrenia, highlighting the importance of further research in this area.
CURRENT OPINION IN BEHAVIORAL SCIENCES
(2023)
Article
Clinical Neurology
Livia Asan, Stephan Klebe, Christoph Kleinschnitz, Mark Stettner, Martin Kohrmann
Summary: This case report describes a patient with acute cerebellar ataxia and myoclonus after recovering from COVID-19, who had anti-GFAP antibodies detected in their serum. Treatment with high-dose intravenous steroids led to considerable improvement in symptoms. The presence of anti-GFAP antibodies may be associated with postinfectious acute cerebellar ataxias in COVID-19 patients, potentially aiding in diagnosis of this autoimmune complication.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2021)
Article
Neurosciences
Jin Zhao, Huan Zhang, Xueyu Fan, Xue Yu, Jisen Huai
Summary: Cerebellar ataxia is a type of ataxia caused by dysfunction of the cerebellum, resulting in a loss of voluntary muscle coordination and control of movement. Hereditary ataxia is the most common type, but currently there is no cure for almost all subtypes.
MOLECULAR NEUROBIOLOGY
(2022)
Article
Multidisciplinary Sciences
Katie Bechman, Mark Yates, Kirsty Mann, Deepak Nagra, Laura-Jane Smith, Andy I. Rutherford, Amit Patel, Jimstan Periselneris, David Walder, Richard J. B. Dobson, Zeljko Kraljevic, James H. T. Teo, William Bernal, Richard Barker, James B. Galloway, Sam Norton
Summary: The outcomes for patients admitted with severe Covid-19 were found to be different in the first and second waves in the UK. Despite accounting for demographics, comorbidities, and disease severity, there was a significant decrease in mortality in the second wave of COVID-19.
Article
Computer Science, Information Systems
Zina M. Ibrahim, Daniel Bean, Thomas Searle, Linglong Qian, Honghan Wu, Anthony Shek, Zeljko Kraljevic, James Galloway, Sam Norton, James T. Teo, Richard J. B. Dobson
Summary: Accurate prognosis is crucial for clinical decision making, resource management, and personalized care. This study introduces a highly-scalable and robust machine learning framework for automatically predicting adverse events during hospital admission using time-series data of vital signs and laboratory results. The model outperforms existing platforms in both ICU and general ward settings, achieving high precision and recall rates.
IEEE JOURNAL OF BIOMEDICAL AND HEALTH INFORMATICS
(2022)
Article
Clinical Neurology
Risha Govind, Daniela Fonseca de Freitas, Megan Pritchard, Mizanur Khondoker, James T. Teo, Robert Stewart, Richard D. Hayes, James H. MacCabe
Summary: This study investigated the association between clozapine treatment and increased risk of adverse outcomes in COVID-19 among patients with schizophrenia-spectrum disorders. The results showed that there was no significant association between clozapine treatment and hospitalization, intensive care treatment, or death during COVID-19 infection.
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2022)
Editorial Material
Clinical Neurology
Rubika Balendra, Matthew North, Guru Kumar, Saad Qutab, Hamid Aminy Raouf, Shane S. Delamont, M. S. Chong, Shahir S. Hamdulay, Mushtaqur Rahman, Fergus J. Robertson, Chandrashekar Hoskote, Fion D. Bremner, Simon F. Farmer, Laurence Watkins, Michael S. Zandi, Hadi Manji, S. Anand Trip, Ross W. Paterson, Orlando B. C. Swayne
JOURNAL OF NEURO-OPHTHALMOLOGY
(2022)
Article
Psychology
Orlando B. Swayne, Nikos Gorgoraptis, Alex Leff, Sara Ajina
Summary: Hemispatial inattention (HSI), a common consequence of stroke, affects spatial processing. Dopaminergic medication has shown potential in improving HSI in the chronic post-stroke period. This study audited the use of dopaminergic medication in ten patients with post-stroke HSI and found convincing improvement in six patients. The star cancellation test was sensitive to HSI in most patients.
JOURNAL OF NEUROPSYCHOLOGY
(2022)
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)
Review
Cardiac & Cardiovascular Systems
Kevin O'Gallagher, James Th Teo, Ajay M. Shah, Fiona Gaughran
Summary: This review focuses on the interaction between race, ethnicity, severe mental illness, and cardiovascular disease, particularly in terms of cardiovascular care pathways. Strategies to investigate and address disparities in cardiovascular care for patients with severe mental illness are also discussed.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
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.
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
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)
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)
Review
Clinical Neurology
Joshua Au Yeung, Yang Yang Wang, Zeljko Kraljevic, James T. H. Teo
Summary: This article provides a practical guide for non-technical neurologists to understand the applications of artificial intelligence (AI) in healthcare. It introduces basic concepts of AI, explains its applications in clinical decision-making, and discusses performance measurement and regulatory aspects. The article highlights the importance of understanding AI basics for making informed decisions in clinical practice.
PRACTICAL NEUROLOGY
(2023)
Article
Computer Science, Artificial Intelligence
Mark S. Graham, Petru-Daniel Tudosiu, Paul Wright, Walter Hugo Lopez Pinaya, Petteri Teikari, Ashay Patel, Jean-Marie U-King-Im, Yee H. Mah, James T. Teo, Hans Rolf Jager, David Werring, Geraint Rees, Parashkev Nachev, Sebastien Ourselin, M. Jorge Cardoso
Summary: In this study, several segmentation methods with uncertainty were evaluated for the task of segmenting bleeds in 3D CT of the head. The results showed that these models can fail catastrophically in the far out-of-distribution domain, often providing highly confident but incorrect predictions. A method using a latent transformer model for out-of-distribution detection was proposed, which could identify images that are both far and near out-of-distribution, as well as provide spatial maps highlighting the regions considered to be out-of-distribution. Furthermore, a strong relationship between an image's likelihood and the quality of a model's segmentation on it was found, demonstrating the viability of this approach for filtering out unsuitable images.
MEDICAL IMAGE ANALYSIS
(2023)
Proceedings Paper
Computer Science, Artificial Intelligence
Walter H. L. Pinaya, Mark S. Graham, Robert Gray, Pedro F. da Costa, Petru-Daniel Tudosiu, Paul Wright, Yee H. Mah, Andrew D. MacKinnon, James T. Teo, Rolf Jager, David Werring, Geraint Rees, Parashkev Nachev, Sebastien Ourselin, M. Jorge Cardoso
Summary: In this paper, a method based on diffusion models for detecting and segmenting anomalies in brain imaging is proposed. The proposed method achieves competitive performance compared to autoregressive approaches, while significantly reducing inference times, making it clinically viable.
MEDICAL IMAGE COMPUTING AND COMPUTER ASSISTED INTERVENTION, MICCAI 2022, PT VIII
(2022)
