Review
Clinical Neurology
Tatiana Abou Mrad, Kim Naja, Samia J. Khoury, Salem Hannoun
Summary: The widespread use of MRI has resulted in an increase in incidental findings in the central nervous system. Radiologically isolated syndrome (RIS) is characterized by imaging-detected lesions suggestive of demyelinating disease without clinical episodes consistent with multiple sclerosis (MS). This article reviews two potential biomarkers, the central vein sign (CVS) and the paramagnetic rim sign (PRS), and their role in the diagnosis and prognosis of MS and RIS. Both CVS and PRS have shown to be accurate diagnostic markers with high sensitivity and specificity in distinguishing MS from other disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
Andres G. Barboza, Edgar Carnero Contentti, Maria Celeste Curbelo, Mario Javier Halfon, Juan Ignacio Rojas, Berenice A. Silva, Vladimiro Sinay, Santiago Tizio, Maria Celica Ysrraelit, Ricardo Alonso
Summary: Radiologically isolated syndrome refers to a group of patients with imaging suggestive of demyelinating disease but without clinical episodes of multiple sclerosis. Research shows that 30-50% of these patients will progress to multiple sclerosis within 5 years, with male sex, age < 37 years, and spinal lesions increasing the risk.
NEUROLOGICAL SCIENCES
(2021)
Review
Immunology
Manon Rival, Manon Galoppin, Eric Thouvenot
Summary: Exploring protein biomarkers for Radiologically Isolated Syndrome (RIS) helps in accurately predicting the risk of patients transitioning to clinical multiple sclerosis; specific microRNA and protein markers have been found in converters of RIS, aiding in better prediction of disease progression.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Clinical Neurology
Sara Collorone, Michael A. A. Foster, Ahmed T. T. Toosy
Summary: Radiologically isolated syndrome is characterized by white-matter hyperintensities suggestive of multiple sclerosis in individuals without a history of clinical demyelinating episodes. It is likely the pre-symptomatic stage of multiple sclerosis but is not well understood. This mini review summarizes the current knowledge on advanced imaging techniques in radiologically isolated syndrome, which provide insights into its pathobiology and prognosis. The imaging techniques include magnetic resonance imaging-derived markers of central nervous system volumetrics, connectivity, and the central vein sign, as well as optical coherence tomography-related metrics.
FRONTIERS IN NEUROLOGY
(2023)
Article
Medicine, General & Internal
Giorgia Sforza, Gabriele Monte, Alessandra Voci, Lorenzo Figa Talamanca, Laura Papetti, Michela Ada Noris Ferilli, Martina Proietti Checchi, Massimiliano Valeriani, Romina Moavero
Summary: This article presents a case study of a 10-year-old boy who was diagnosed with radiologically isolated syndrome (RIS) after being diagnosed with tuberous sclerosis complex (TSC). It is the third reported case of the co-occurrence of TSC and demyelinating disease, suggesting a potential link between the two conditions.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Clinical Neurology
Maria Pia Amato, Nicola De Stefano, Matilde Inglese, Emanuele Morena, Giovanni Ristori, Marco Salvetti, Maria Trojano
Summary: Despite significant progress in MS treatment, there are still two major unmet needs: understanding the disease's etiology and designing definitive cures, as well as preventing severe and disabling manifestations. Radiologically isolated syndrome and prodromal MS pose the risk of progressing to overt disease. Implementation of study groups and disease registry are important for conducting informative clinical trials.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Massimiliano Calabrese, Damiano Marastoni, Francesco Crescenzo, Antonio Scalfari
Summary: This review discusses the challenges in diagnosing patients with the first demyelinating attack or RIS, focusing on the updated diagnostic criteria, considering neuroinflammatory conditions in the differential diagnosis, and identifying factors that predict MS development. Accurate interpretation of demyelinating attacks, MRI results, and the importance of cerebrospinal fluid examination are emphasized for an early and precise MS diagnosis to start timely disease-modifying therapy and improve long-term outcomes.
CURRENT OPINION IN NEUROLOGY
(2021)
Article
Clinical Neurology
Panagiotis Chaloulos-Iakovidis, Franca Wagner, Lea Weber, Lara Diem, Andrew Chan, Anke Salmen, Christoph Friedli, Robert Hoepner
Summary: This retrospective study analysed the Bernese radiologically isolated syndrome (RIS) cohort to develop a prediction score for multiple sclerosis (MS) conversion. Results show that gadolinium enhancement, brainstem and cerebellar hemisphere lesions, immune cell count and albumin concentration in CSF, and ANA positivity in serum were significant predictors of MS conversion. The RIS-MS prediction score could be a useful tool for early recognition of RIS patients at high risk of progressing to MS.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2021)
Article
Clinical Neurology
Darin T. Okuda, Orhun Kantarci, Christine Lebrun-Frenay, Maria Pia Sormani, Christina J. Azevedo, Francesca Bovis, Le H. Hua, Lilyana Amezcua, Ellen M. Mowry, Christophe Hotermans, Jason Mendoza, John S. Walsh, Christian von Hehn, Wendy S. Vargas, Stacy Donlon, Robert T. Naismith, Annette Okai, Gabriel Pardo, Pavle Repovic, Olaf Stuve, Aksel Siva, Daniel Pelletier
Summary: This study evaluated the impact of therapeutic intervention in preventing the first symptom manifestation in individuals with radiologically isolated syndrome (RIS), the pre-clinical phase of multiple sclerosis (MS). The results showed that drug treatment significantly reduced the risk of clinical symptoms.
ANNALS OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
J. M. Miguel, M. Roldan, C. Perez-Rico, M. Ortiz, L. Boquete, R. Blanco
Summary: This study assessed the role of mfVEPs in predicting clinical conversion in RIS patients, finding significant changes in SNRmin and b(max) features in those who converted. The new features identified may be useful for predicting prognosis in RIS patients.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Mikael Cohen, Lydiane Mondot, Salim Fakir, Cassandre Landes, Christine Lebrun
Summary: The study explored the use of digital biomarkers to distinguish healthy controls from subjects with radiologically isolated syndrome. An app called MS Screen Test was developed to assess neurological exam dimensions. Results showed that RIS subjects performed worse in finger tapping speed, hand synchronization, low contrast vision, and cognition compared to age and gender-matched healthy controls.
JOURNAL OF NEUROLOGY
(2021)
Review
Clinical Neurology
Virginia Meca-Lallana, Leticia Berenguer-Ruiz, Joan Carreres-Polo, Sara Eichau-Madueno, Jaime Ferrer-Lozano, Lucia Forero, Yolanda Higueras, Nieves Tellez Lara, Angela Vidal-Jordana, Francisco Carlos Perez-Miralles
Summary: Multiple sclerosis is an inflammatory and degenerative disease of the central nervous system triggered by unknown environmental factors in patients with genetic risk profiles. Prevention of neurological disability is essential, but mechanisms driving disease progression remain unknown. Lack of markers for early detection and varying definitions of disability progression complicate assessment in clinical practice.
FRONTIERS IN NEUROLOGY
(2021)
Letter
Clinical Neurology
Angela Domingo-Santos, Andres Labiano-Fontcubert, Yolanda Aladro-Benito, M. Luisa Martinez-Gines, Lucia Ayuso-Peralta, Veronica Puertas-Martin, Marta Cerezo-Garcia, Yolanda Higueras-Hernandez, Virginia Mato-Abad, Juan Alvarez-Linera, Juan Antonio Hernandez-Tamames, Julian Benito-Leon
Summary: In a study of patients with radiologically isolated syndrome (RIS), it was found that 35.3% of patients exhibited cognitive impairment, with lower brain and gray matter volumes compared to healthy controls. After a median follow-up period of 4.5 years, the cognitively impaired RIS subgroup showed a higher conversion rate to multiple sclerosis (MS), suggesting that cognitive impairment may be an independent risk factor for conversion to MS.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2021)
Article
Clinical Neurology
Manon Rival, Eric Thouvenot, Lucile Du Trieu de Terdonck, Sabine Laurent-Chabalier, Christophe Demattei, Ugur Uygunoglu, Giovanni Castelnovo, Mikael Cohen, Darin T. Okuda, Orhun H. Kantarci, Daniel Pelletier, Christina Azevedo, Philippe Marin, Sylvain Lehmann, Aksel Siva, Thibault Mura, Christine Lebrun-Frenay
Summary: This study evaluates the predictive value of serum neurofilament light chain (sNfL) and CSF NfL (cNfL) in patients with radiologically isolated syndrome (RIS) for evidence of disease activity and clinical conversion. The results indicate that both sNfL and cNfL can independently predict disease activity and clinical conversion.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Article
Clinical Neurology
Ozge Arici Duz, Ozlem Saatci, Ece Zeynep Karakulak, Erkingul Birday, Lutfu Hanoglu
Summary: Olfactory dysfunction can be observed in RIS patients similar to RRMS patients. Cognitive and olfactory dysfunction together may indicate degeneration in demyelinating diseases.
EUROPEAN NEUROLOGY
(2021)
