Letter
Clinical Neurology
Adaja E. Baars, Pieter A. A. Van Doorn, Bart C. C. Jacobs, Krista Kuitwaard
Summary: We appreciate Dr. Harth's comment on our recent study on the risk of GBS recurrences and exacerbations of CIDP or multifocal motor neuropathy after SARS-CoV-2 vaccination. However, we regret that our colleague experienced brachial plexopathy and dysautonomia after a third COVID-19 vaccination, and vaccination cannot be ruled out as a potential cause without other antecedent events.
Article
Neurosciences
Jie Xu, Nobuhiro Yuki, Norito Kokubun, Feng Gao, Fangzhen Shan, Qiguang Shi, Yuzhong Wang
Summary: This study investigated the role of macrophages in the pathogenesis of AIDP. The results showed that macrophages acted as scavengers to remove myelin debris following complement activation-mediated demyelination in the AIDP rabbit model. Additionally, lesions at the node of Ranvier contributed to conduction failure and muscle weakness.
Article
Clinical Neurology
Umair J. Chaudhary, Yusuf A. Rajabally
Summary: Underdiagnosis of CIDP is common and can result in significant delays in diagnosis and treatment initiation. Lack of comprehensive attention to typical electroclinical features of CIDP and its diagnostic criteria at the time of initial evaluation contributes to underdiagnoses.
JOURNAL OF NEUROLOGY
(2021)
Article
Immunology
Caterina Francesca Bagella, Davide G. Corda, Pietro Zara, Antonio Emanuele Elia, Elisa Ruiu, Elia Sechi, Paolo Solla
Summary: This study reported cases of Guillain-Barre syndrome after COVID-19 vaccination, highlighting the need for close monitoring in these patients after the acute phase to exclude chronic evolution of the disease.
Article
Immunology
Ivan Kmezic, Rasmus Gustafsson, Katharina Fink, Anders Svenningsson, Kristin Samuelsson, Caroline Ingre, Tomas Olsson, Magnus Hansson, Ingrid Kockum, Milena Z. Adzemovic, Rayomand Press
Summary: This study suggests that IL8 may serve as a diagnostic and prognostic biomarker in GBS and CIDP. The researchers also identified several potential biomarkers associated with these diseases using multiplex PEA analysis.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Clinical Neurology
Shinya Narukawa, Keita Ishizuka, Kohei Sugimoto, Kyoichi Nomura
Summary: This study investigated whether phrenic nerve conduction studies (PNCS) can predict when patients with ALS, GBS, CIDP, and DM will require invasive mechanical ventilation (IMV). The results showed that patients in the IMV group with ALS and GBS had lower PNCS amplitudes and longer latencies.
Review
Clinical Neurology
Jun-ichi Kira
Summary: CIDP is an immune-mediated demyelinating disease of the PNS, with NF155(+) CIDP characterized by demyelinating lesions in both the CNS and PNS, due to the upregulation of Th2 and Th1 cytokines resulting from IgG4 class switching, leading to spinal root inflammation and lack of macrophage infiltration in sural nerves.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Maria E. Sundaram, Burney A. Kieke, Kayla E. Hanson, Edward A. Belongia, Eric S. Weintraub, Matthew F. Daley, Rulin C. Hechter, Nicola. P. Klein, Edwin. M. Lewis, Allison L. Naleway, Jennifer C. Nelson, James G. Donahue
Summary: This observational cohort study investigated the occurrence of three rare and serious adverse events following 9-valent human papillomavirus (9vHPV) vaccination compared to other vaccinations. The study found no statistically significant increase in risks associated with 9vHPV vaccination for these adverse events.
HUMAN VACCINES & IMMUNOTHERAPEUTICS
(2023)
Review
Cell Biology
Theresa Greiner, Markus Kipp
Summary: Multiple sclerosis initially presents with a relapsing-remitting disease course, then progresses to a secondary progressive stage. In both stages, peripheral immune cells are triggered by CNS-intrinsic stimuli to invade the brain parenchyma.
Review
Biochemistry & Molecular Biology
Josef Finsterer
Summary: Guillain-Barre syndrome is a rare neuro-immunological disorder that usually occurs after a previous gastrointestinal or respiratory infection. The most common triggers are infections, with Campylobacter jejuni, Mycoplasma pneumoniae, and cytomegalovirus being the most common infectious agents. The clinical presentation varies depending on the structure of pathogenic lipo-oligosaccharides. Molecular mimicry between pathogen surface structures and nerve components may explain the pathophysiology of GBS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Andreea-Raluca Hanganu, Alexandru Constantin, Elena-Sonia Moise, Cristian-Mihail Niculae, Ioana Diana Olaru, Cristian Baicus, Adriana Hristea
Summary: There is increasing evidence that COVID-19 can affect both the central and peripheral nervous systems, with a particular impact on the cranial nerves. Facial, vestibulo-cochlear, and olfactory nerves are the most frequently involved. Patients with peripheral nervous system involvement are more likely to be hospitalized and experience post-COVID-19 sequelae. Overall, the importance of this study is rated at 8 out of 10.
Article
Clinical Neurology
Maelle Tyberghein, Aude-Marie Grapperon, Olivier Bouquiaux, Angela Puma, Shahram Attarian, Francois Charles Wang
Summary: This study aimed to establish the reliability of a new technique evaluating motor axon excitability through a multicentric approach. Results showed significant increases in iMAX parameters in CMT1a and CIDP patients, with homogeneous abnormalities in CMT1a but not in CIDP. The iMAX procedure was found to be reliable for monitoring motor axon excitability disorders.
CLINICAL NEUROPHYSIOLOGY
(2022)
Review
Immunology
Wai M. Oo, Pradeep Giri, Aaron de Souza
Summary: The emergence of the COVID-19 pandemic has posed an unprecedented global challenge, with vaccines now developed. COVID-19 has been linked to GBS, and post-COVID-19 vaccination inflammatory demyelinating polyneuropathy cases are mostly associated with the AstraZeneca vaccine. Bifacial weakness variant is the most reported form of GBS globally.
JOURNAL OF NEUROIMMUNOLOGY
(2021)
Article
Clinical Neurology
Priyank Patel, Darshil Shah, Chinmay Jani, Jui Shah, Ruchi Jani, Arjun Kelaiya, Jinal Pandya, Harpreet Singh, Omar Al Omari, Dhara Roy, Irmgard Behlau, Ami Parikh
Summary: This study evaluated the short-term and in-hospital outcomes in different subtypes of Guillain-Barre Syndrome (GBS). The results showed that early cranial nerve and respiratory involvement were associated with poor outcomes in GBS patients. Patients with the axonal subtype of GBS had poorer clinical outcomes.
Review
Immunology
Abu Baker Sheikh, Prabal Kumar Chourasia, Nismat Javed, Mehul Kumar Chourasia, Sajid S. Suriya, Shubhra Upadhyay, Fatima Ijaz, Suman Pal, Narges Moghimi, Rahul Shekhar
Summary: This systematic review focused on Guillain-Barre syndrome (GBS) as a complication of COVID-19 infection, analyzing demographic characteristics, clinical features, diagnostic workup, and management of patients. Most patients were male with paresthesia as the typical symptom, diagnosed mainly through RT-PCR, and treated with intravenous immunoglobulins (IVIg) in 77.7% of the cases.
JOURNAL OF NEUROIMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
David Adams, Ivailo L. Tournev, Mark S. Taylor, Teresa Coelho, Violaine Plante-Bordeneuve, John L. Berk, Alejandra Gonzalez-Duarte, Julian D. Gillmore, Soon-Chai Low, Yoshiki Sekijima, Laura Obici, Chongshu Chen, Prajakta Badri, Seth M. Arum, John Vest, Michael Polydefkis
Summary: This study assessed the effectiveness of vutrisiran in patients with hereditary transthyretin amyloidosis. The results showed significant improvements in disease-relevant outcomes and an acceptable safety profile for vutrisiran.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2023)
Article
Clinical Neurology
Elisa Vegezzi, Andrea Cortese, Niels Bergsland, Roberta Mussinelli, Matteo Paoletti, Francesca Solazzo, Riccardo Curro, Lucia Ascagni, Ilaria Callegari, Ilaria Quartesan, Alessandro Lozza, Xeni Deligianni, Francesco Santini, Enrico Marchioni, Giuseppe Cosentino, Enrico Alfonsi, Cristina Tassorelli, Stefano Bastianello, Giampaolo Merlini, Giovanni Palladini, Laura Obici, Anna Pichiecchio
Summary: This study investigates the role of muscle quantitative MRI (qMRI) as an outcome measure in hereditary transthyretin (ATTRv) amyloidosis. The researchers found that patients with ATTRv had significantly higher fat fraction (FF) and water T2 (wT2) values in their muscles compared to healthy controls. These qMRI biomarkers correlated with clinical and neurophysiological measures of disease severity.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Margherita Nosadini, Michael Eyre, Thea Giacomini, Massimiliano Valeriani, Marida Della Corte, Andrea D. Pratico, Pietro Annovazzi, Ramona Cordani, Duccio Maria Cordelli, Giovanni Crichiutti, Gabriella Di Rosa, Valentina Dolcemascolo, Anna Fetta, Elena Freri, Paolo Gallo, Matteo Gastaldi, Tiziana Granata, Luisa Grazian, Raffaele Iorio, Martina Lombardini, Monica Margoni, Sara Mariotto, Sara Matricardi, Federico Melani, Nardo Nardocci, Laura Papetti, Alice Passarini, Francesco Pisani, Chiara Po, Marco Puthenparampil, Francesca Ragona, Salvatore Savasta, Sabrina Siliquini, Irene Toldo, Alessandra Tozzo, Emanuela Claudia Turco, Antonio Varone, Alberto Vogrig, Luigi Zuliani, Samuela Bugin, Sara Rossato, Alessandro Orsini, Gaetano Cantalupo, Maria Margherita Mancardi, Michela Ada Noris Ferilli, Thomas Foiadelli, Stefano Sartori
Summary: This study aimed to identify early factors associated with relapse and outcome in pediatric-onset MOGAD. The study found that early immunotherapy, longer duration of corticosteroid treatment, and abnormal optic nerves on MRI were associated with a lower risk of relapse. Meanwhile, higher disease severity at onset was associated with a greater risk of final disability.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Article
Clinical Neurology
Lynda El-Hassar, Ahmed Amara, Benoit Sanson, Oana Lacatus, Ahmed Amir Belhouchet, Madelon Kroneman, Kristl Claeys, Jean Philippe Plancon, Carmelo Rodolico, Guido Primiano, Francesca Trojsi, Massimiliano Filosto, Tiziana Enrica Mongini, Sara Bortolani, Mauro Monforte, Elena Carraro, Lorenzo Maggi, Federica Ricci, Vincenzo Silani, Daniele Orsucci, Alain Creange, Yann Pereon, Tanya Stojkovic, Nadine Anna Maria Elisabeth van der Beek, Antonio Toscano, Davide Pareyson, Shahram Attarian, Peter Y. K. Van den Bergh, Gauthier Remiche, Janneke G. J. Hoeijmakers, Umesh Badrising, Nicol C. Voermans, Angela M. Kaindl, Ulrike Schara-Schmidt, Benedikt Schoser, Elisabetta Gazzerro, Jana Haberlova, Stanislav Vohanka, Endre Pal, Maria Judit Molnar, Lea Leonardis, Ivailo L. Tournev, Andres Nascimento Osorio, Montse Olive, Nuria Muelas, Jorge Alonso-Perez, Francesc Pla, Marianne de Visser, Gabriele Siciliano, Sabrina Sacconi
Summary: Telemedicine has played a crucial role in providing healthcare assistance for NMD patients during the COVID-19 pandemic. However, there are limitations in its application, especially for patients with cognitive deficits or those in need of initial diagnosis. Therefore, it should be used as a complement rather than a substitute for face-to-face consultations.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Review
Clinical Neurology
Mary M. Reilly, David N. Herrmann, Davide Pareyson, Steven S. Scherer, Richard S. Finkel, Stephan Zuechner, Joshua Burns, Michael E. Shy
Summary: Heritable neurological disorders provide insights into disease mechanisms, facilitating the development of novel therapeutic approaches. The challenges of measuring disease progression in rare and slowly progressive neurogenetic diseases are addressed through the development of clinical outcome assessments and disease biomarkers in inherited peripheral neuropathies. It is proposed that carefully developed biomarkers from imaging, plasma, or skin can predict meaningful progression in functional and patient-reported outcome assessments, enabling feasible clinical trials within a shorter duration for these rare and ultra-rare disorders.
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Christopher J. Record, Mariola Skorupinska, Matilde Laura, Alexander M. Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M. E. Feely, Thomas E. Lloyd, Rita Horvath, Reza Sadjadi, David N. Herrmann, Jun Li, David Walk, Sabrina W. Yum, Richard A. Lewis, John Day, Joshua Burns, Richard S. Finkel, Mario A. Saporta, Sindhu Ramchandren, Michael D. Weiss, Gyula Acsadi, Vera Fridman, Francesco Muntoni, Roy Poh, James M. Polke, Stephan Zuchner, Michael E. Shy, Steven S. Scherer, Mary M. Reilly
Summary: This study collected demographic, clinical and genetic data on CMT patients with GJB1 variants and found that males are more severely affected than females. It also found that some reported GJB1 variants remain classified as variants of uncertain significance. By analyzing a large cohort, the study showed that enhanced variant interpretation increases the proportion of pathogenic variants in GJB1.
Article
Clinical Neurology
Tyler Rehbein, Tong Tong Wu, Simona Treidler, Davide Pareyson, Richard Lewis, Sabrina W. Yum, Brett A. McCray, Sindhu Ramchandren, Joshua Burns, Jun Li, Richard S. Finkel, Steven S. Scherer, Stephan Zuchner, Michael E. Shy, Mary M. Reilly, David N. Herrmann
Summary: Recessive SH3TC2 variants cause CMT4C, a disease with variable clinical characteristics. Longitudinal analysis of 56 patients showed that CMTES and CMTES-R scores were moderately responsive to change over 3 years, indicating their usefulness in assessing disease progression.
Article
Clinical Neurology
Chiara Pisciotta, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Stefano Tozza, Tiziana Cavallaro, Federica Taioli, Moreno Ferrarini, Marina Grandis, Emilia Bellone, Paola C. Mandich, Stefano Previtali, Yuri Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Aldo Quattrone, Paola Valentino, Luca Gentile, Massimo Russo, Daniela Calabrese, Isabella Moroni, Emanuela Pagliano, Paola Saveri, Stefania Magri, Silvia Baratta, Franco Taroni, Anna Mazzeo, Lucio Santoro, Giuseppe Vita, Davide Pareyson, Italian CMT Network
Summary: Data from the Italian CMT Registry show that 1012 patients were registered, with 535 females, and 711 patients received a genetic diagnosis. The most common mutation was the PMP22 duplication (45.2%). CMT4A was the most severe type, followed by CMT4C and CMT1E. Foot deformities and walking difficulties were the main features. Shoe inserts and orthotic aids were used by almost one-half of all patients. Scoliosis was present in 20% of patients, especially in CMT4C.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Chiara Benzoni, Marco Moscatelli, Laura Farina, Stefania Magri, Claudia Ciano, Vidmer Scaioli, Sara Alvera, Gabriella Cammarata, Stefania Bianchi-Marzoli, Massimo Castellani, Felicia Margherita Zito, Giorgio Marotta, Sylvie Piacentini, Alberto Villacara, Renato Mantegazza, Cinzia Gellera, Joao Duraes, Ana Gouveia, Anabela Matos, Maria do Carmo Macario, Davide Pareyson, Franco Taroni, Daniela Di Bella, Ettore Salsano
Summary: In this study, clinical and laboratory information of adult-onset leukodystrophy with vanishing white matter (LVWM) patients was reviewed. The study found that AO-LVWM presents varying clinical manifestations, including stroke-like events; white matter rarefaction is the most consistent diagnostic clue; cerebral glucose metabolic abnormalities and retinal alterations can be present; and LVWM might also be caused by a digenic inheritance affecting the eIF2B complex.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Roberto Gasparotti, Alessandro Salvalaggio, Daniele Corbo, Giorgio Agazzi, Mario Cacciavillani, Alessandro Lozza, Silvia Fenu, Grazia De Vigili, Matteo Tagliapietra, Gian Maria Fabrizi, Davide Pareyson, Laura Obici, Chiara Briani
Summary: Quantitative assessment of Magnetic Resonance Neurography (MRN) and Diffusion Tensor Imaging (DTI) of the sciatic nerve can reliably differentiate hereditary transthyretin amyloidosis (ATTRv) patients and pre-symptomatic carriers, providing a potential tool for early diagnosis and disease monitoring.
JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Katy Eichinger, Steffen E. Behrens-Spraggins, Janet Sowden, Davide M. Pareyson, Mary S. Reilly, Steven E. Scherer, Michael N. Shy, David Herrmann
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Article
Clinical Neurology
Lorenzo Nanetti, Stefania Magri, Mario Fichera, Anna Castaldo, Anna Nigri, Chiara Pinardi, Alessia Mongelli, Lidia Sarro, Davide Pareyson, Marina Grisoli, Cinzia Gellera, Daniela Di Bella, Caterina Mariotti, Franco Taroni
Summary: This study identified a form of spinocerebellar ataxia (SCA) characterized by the presence of an intermediate-length expansion in the TATA-box binding protein gene (TBP40-46) and a pathogenic variant in the Stip1-homologous and U-Box containing protein 1 gene (STUB1), representing the first example of digenic inheritance in a cerebellar disorder. Patients with SCA(TBP/STUB1) exhibited multi-domain dementia and more severe impairment compared to those carrying only fully expanded SCA17 alleles. Neuroimaging analysis revealed reduced cerebellar volume and thickness in SCA(TBP/STUB1) patients, as well as basal ganglia volume reduction in both patient groups. The findings have implications for diagnosis and genetic counseling in families with hereditary and sporadic ataxia.
MOVEMENT DISORDERS
(2023)
Editorial Material
Clinical Neurology
Matteo Gastaldi, Diego Franciotta
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Oncology
Maria-Jose Ibanez-Julia, Alberto Picca, Delphine Leclercq, Giulia Berzero, Julian Jacob, Loic Feuvret, Charlotte Rosso, Cristina Birzu, Agusti Alentorn, Marc Sanson, Camille Tafani, Flavie Bompaire, Luis Bataller, Khe Hoang-Xuan, Jean-Yves Delattre, Dimitri Psimaras, Damien Ricard
Summary: It has been found that there is an increased risk of stroke in adults with primary brain tumors who have undergone cranial radiotherapy.
JOURNAL OF CANCER SURVIVORSHIP
(2023)
Article
Clinical Neurology
Marta Bellofatto, Luca Gentile, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano Previtali, Marina Scarlato, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Flavio Villani, Eleonora Cavalca, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Giuseppe Didato, Chiara Pisciotta, Davide Pareyson, CMT Network
Summary: This study investigated the presence of sleep abnormalities in Charcot-Marie-Tooth disease (CMT) patients and their correlation with disease severity and characteristics. The results showed that CMT patients had poor sleep quality and daytime somnolence, which were associated with anxiety, depression, and fatigue.
JOURNAL OF NEUROLOGY
(2023)