Article
Clinical Neurology
Yunyun Duan, Zhizheng Zhuo, Haiqing Li, De-Cai Tian, Yuxin Li, Liqin Yang, Chenyang Gao, Tian Zhang, Xinghu Zhang, Fu-Dong Shi, Frederik Barkhof, Yaou Liu
Summary: MOGAD demonstrates cortical and subcortical atrophy without severe WM rarefaction. The subcortical grey matter volume correlates with clinical disability. A combination of MRI and clinical measures can differentiate MOGAD from AQP4+ NMOSD and MS.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Immunology
Bin Gou, Ping Yang, Jinzhou Feng, Yongmei Li, Gen Huang, Jiafeng Shi, Lu Wen, Xiuming Guo, Peng Zheng, Gang Yu
Summary: Neuromyelitis optica spectrum disorders (NMOSD) is an autoimmune demyelinating disease characterized by AQP4 IgG autoantibodies. Some AQP4-negative NMOSD patients exhibit MOG antibodies, and this subgroup is known as MOG antibody-associated disease (MOGAD), which is different from NMOSD. Early treatment strategy is crucial for good prognosis due to the disabling nature of NMOSD. Rituximab (RTX) is the first-line treatment for NMOSD, but its use is limited by the high rate of systemic allergic reactions. We report a rare case of AQP4 and MOG-IgG double positive NMOSD patient effectively and safely treated with ofatumumab (OFA), a novel fully humanized anti-CD20 monoclonal antibody.
JOURNAL OF NEUROIMMUNOLOGY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Tobias Zrzavy, Fritz Leutmezer, Paulus Rommer, Gabriel Bsteh, Barbara Kornek, Thomas Berger, Daniela Prayer, Majda Thurnher, Lukas Haider
Summary: The study compares the diagnostic performance of imaging criteria in differentiating AQP4(+)NMOSD and MS at disease onset and follow-up. The results show high sensitivity and specificity at both time-points, indicating the valuable use of these imaging criteria in clinical practice.
EUROPEAN JOURNAL OF RADIOLOGY
(2022)
Article
Clinical Neurology
Luca Bollo, Pietro Iaffaldano, Maddalena Ruggieri, Claudia Palazzo, Mariangela Mastrapasqua, Alessia Manni, Damiano Paolicelli, Antonio Frigeri, Maria Trojano
Summary: The study aimed to evaluate longitudinal changes of serum MOG-IgG and AQP4-IgG antibody titer in NMOSD patients and found that the semiquantitative ratiometric method accurately detects even slight variation, suggesting its usefulness in monitoring disease progression and maintenance immunotherapy.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Giulia Fadda, Eoin P. Flanagan, Laura Cacciaguerra, Jiraporn Jitprapaikulsan, Paolo Solla, Pietro Zara, Elia Sechi
Summary: Inflammatory myelopathies can cause motor, sensory, and autonomic dysfunction. Early recognition and treatment are crucial to prevent long-term disability.
FRONTIERS IN NEUROLOGY
(2022)
Article
Immunology
Fengna Chu, Mingchao Shi, Canyun Liu, Jie Zhu
Summary: In this study, we compared the clinical and laboratory characteristics between NMOSD patients with and without AQP4-IgG. The results showed that NMOSD with AQP4-IgG occurred more frequently in women and had more severe symptoms, BBB damage, and higher levels of MBP and IL-17 in CSF and blood. AQP4-IgG is considered as the pathogenic factor for NMOSD, but a significant percentage of patients lack this antibody. The differences observed suggest the heterogeneity of NMOSD, indicating the need to identify additional pathogenic factors and explore new therapeutic methods.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2023)
Article
Clinical Neurology
Nicolas Collongues, Cecilia Alves Do Rego, Bertrand Bourre, Damien Biotti, Romain Marignier, Ana Martins da Silva, Ernestina Santos, Elisabeth Maillart, Caroline Papeix, Jacqueline Palace, Maria Isabel S. Leite, Jerome De Seze
Summary: This study found a rebound in the annualized relapse rate during the first postpartum trimester that was higher than the prepregnancy period only in AQP4-Ab-positive patients. Taking immunosuppressive therapy just before or during pregnancy reduces the risk of relapses in these conditions.
Article
Immunology
Chuan-bin Sun
Summary: This study evaluated the prevalence of MOG-Ab and AQP4-Ab in ON patients after SARS-CoV-2 infection. The results showed that 28.6% (10/35) of ON cases were positive for MOG-Ab and 5.7% (2/35) were positive for AQP4-Ab.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Clinical Neurology
Tetsuya Akaishi, Noriko Himori, Takayuki Takeshita, Tatsuro Misu, Toshiyuki Takahashi, Yoshiki Takai, Shuhei Nishiyama, Kimihiko Kaneko, Juichi Fujimori, Tadashi Ishii, Masashi Aoki, Kazuo Fujihara, Toru Nakazawa, Ichiro Nakashima
Summary: The progression of retinal atrophy in the chronic phase has been observed in patients with AQP4-Abpositive NMOSD, while it remains uncertain in patients with MOGAD. The visual impairments upon similar levels of retinal atrophy would be worse in AQP4-Ab-positive NMOSD, possibly attributable in part to a higher incidence of optic nerve atrophy in this disease.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Meng-Ting Cai, Yang Zheng, Chun-Hong Shen, Fan Yang, Wei Fang, Yin-Xi Zhang, Mei-Ping Ding
Summary: This study validates the effectiveness of Cacciaguerra's imaging criteria in distinguishing AQP4-ab-positive NMOSD from MS in Chinese patients at disease onset, yet shows limited utility in differentiating NMOSD from MOG-AD.
MULTIPLE SCLEROSIS JOURNAL
(2021)
Article
Immunology
Maria Schroeder-Castagno, Alba Del Rio-Serrato, Andreas Wilhelm, Silvina Romero-Suarez, Patrick Schindler, Cesar Alvarez-Gonzalez, Ankelien-Solveig Duchow, Judith Bellmann-Strobl, Klemens Ruprecht, Maria Hastermann, Gerald Gruetz, Brigitte Wildemann, Sven Jarius, Tanja Schmitz-Huebsch, Friedemann Paul, Carmen Infante-Duarte
Summary: This study aimed to evaluate cell death in neutrophils from Aquaporin-4 (AQP4)-IgG seropositive NMOSD and MOGAD patients. The results showed that neutrophils from AQP4 + NMOSD patients exhibited enhanced survival capacity in response to PMA stimulation, but also increased early apoptotic response.
JOURNAL OF NEUROINFLAMMATION
(2022)
Article
Clinical Neurology
Renata Barbosa Paolilo, Carolina de Medeiros Rimkus, Jose Albino da Paz, Samira Luisa Apostolos-Pereira, Dagoberto Callegaro, Douglas Kazutoshi Sato
Summary: This study evaluated the MRI findings of pediatric-onset AQP4-IgG positive NMOSD and found that most lesions either reduced, remained stable, or developed atrophy/cavitation. Some patients had asymptomatic brain lesions or enlargement of existing lesions, and these lesions also occurred during acute attacks in other locations. One patient had an asymptomatic spinal cord lesion, and no asymptomatic lesions were observed in optic nerve MRI. Acute phase exams showed longitudinally extensive transverse myelitis, cervical myelitis, and lumbar myelitis.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2022)
Article
Clinical Neurology
Chenyang Gao, Zhizheng Zhuo, Yunyun Duan, Yajun Yao, Lei Su, Xinghu Zhang, Tian Song
Summary: This study revealed differences in the structure and function of the visual pathway between patients with MOG-ON and AQP4-ON, with better visual outcomes in MOG-ON patients. Both groups showed neuroaxonal damage, but there was no statistically significant difference between them.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Jonathan A. Gernert, Rebecca Wicklein, Bernhard Hemmer, Tania Kumpfel, Benjamin Knier, Joachim Havla
Summary: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) has been identified as a new marker in optical coherence tomography (OCT). This study found that PHOMS occurred in 17% of AQP4+ NMOSD patients and 14% of MOGAD patients, which is comparable to the prevalence in MS patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Rosa Cortese, Ferran Prados Carrasco, Carmen Tur, Alessia Bianchi, Wallace Brownlee, Floriana De Angelis, Isabel de la Paz, Francesco Grussu, Lukas Haider, Anu Jacob, Baris Kanber, Lise Magnollay, Richard S. Nicholas, Anand Trip, Marios Yiannakas, Ahmed T. Toosy, Yael Hacohen, Frederik Barkhof, Olga Ciccarelli
Summary: This study investigated whether imaging characteristics could differentiate between relapsing-remitting multiple sclerosis (RRMS), aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-NMOSD), and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The results showed that the proportion of lesions with the central vein sign (CVS) was the most accurate measure to differentiate RRMS from AQP4-NMOSD, while white matter lesions were the most accurate measure to discriminate RRMS from MOGAD.
Letter
Clinical Neurology
Samuel Pace, Michael Orrell, Mark Woodhall, Jacqueline Palace, Maria Isabel Leite, Sarosh R. Irani, Patrick Waters, Adam E. Handel
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Clinical Neurology
A. Dessa Sadovnick, Irene M. Yee, Maria Criscuoli, Gabriele C. DeLuca
Summary: The study evaluated the impact of temporal increase of female to male sex ratio on the familial risk for individuals with multiple sclerosis. Genetic sharing and environmental factors were found to both play important roles in determining familial risk. An increase in MS risk due to environmental factors was observed over time, particularly for sisters/brothers of female probands.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Article
Clinical Neurology
Marco Pisa, Jonathan Pansieri, Sydney Yee, Jennifer Ruiz, Isabel M. Leite, Jacqueline Palace, Giancarlo Comi, Margaret M. Esiri, Letizia Leocani, Gabriele C. DeLuca
Summary: The anterior optic pathway is often affected in CNS inflammatory demyelinating diseases, with optic neuritis as a common symptom. However, optic nerve involvement can also be subclinical. This study investigates the pathological basis of these findings and shows that chronic inflammation leads to neurodegeneration in multiple sclerosis and neuromyelitis optica.
Article
Clinical Neurology
Richard L. Yates, Jonathan Pansieri, Qizhu Li, Jack S. Bell, Sydney A. Yee, Jacqueline Palace, Margaret M. Esiri, Gabriele C. DeLuca
Summary: The study found that the HLA-DRB1*15 genotype is associated with the relationship between cortical inflammation and neuronal density in multiple sclerosis, suggesting a potential modulation effect of HLA-DRB1*15 on these factors.
Article
Clinical Neurology
Valentina Damato, Gregorio Spagni, Gabriele Monte, Mark Woodhall, Leslie Jacobson, Silvia Falso, Thomas Smith, Raffaele Iorio, Patrick Waters, Sarosh R. Irani, Angela Vincent, Amelia Evoli
Summary: This study found that about one-third of patients with SNMG had positive results in l-CBA testing. These results demonstrate the diagnostic value of performing CBA tests and the need to make these tests more widely available.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Biochemistry & Molecular Biology
Belinda Lennox, Wenzheng Xiong, Patrick Waters, Alasdair Coles, Peter B. Jones, Tianrong Yeo, Jeanne Tan May May, Ksenija Yeeles, Daniel Anthony, Fay Probert
Summary: Some studies suggest that a proportion of psychosis may have an autoimmune basis, but there is currently no biochemical test able to accurately identify inflammation-related psychosis. In a study of acute psychosis patients, distinct clinical and biochemical phenotypes were found in a subgroup of patients, indicating a potential inflammatory subtype.
MOLECULAR PSYCHIATRY
(2022)
Letter
Clinical Neurology
Monica Santos, Ruth Geraldes, Jacqueline Palace
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Anne-Katrin Guettsches, Nancy Meyer, Rene P. Zahedi, Teresinha Evangelista, Thomas Muentefering, Tobias Ruck, Emmanuelle Lacene, Christoph Heute, Humberto Gonczarowska-Jorge, Benedikt Schoser, Sabine Krause, Andreas Hentschel, Matthias Vorgerd, Andreas Roos
Summary: Dominant VCP mutations cause neurological manifestations and protein dysregulation. The increase of FYCO1 protein in VCP-mutant fibroblasts is associated with autophagosome transport. Treatment with arimoclomol drug improves cellular cytotoxicity.
Correction
Medicine, General & Internal
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anais Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Article
Medicine, General & Internal
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anais Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Summary: Normative values for muscle fibre types during paediatric development are generated in this study, providing references for comparison and evaluation of pathological changes, treatment response, and physiological adjustments in different age groups.
Article
Clinical Neurology
Eoin P. Flanagan, Patrick J. Waters
MULTIPLE SCLEROSIS JOURNAL
(2023)
Review
Clinical Neurology
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz-Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas P. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Summary: Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder that affects the autophagy pathway, leading to myopathy, bone diseases, and neurodegeneration. There is currently no consensus-based guideline for the treatment of VCP myopathy. An initiative by Cure VCP Disease Inc. has developed a set of provisional recommendations for the management of VCP myopathy through online surveys, literature review, and expert consultations.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Review
Clinical Neurology
Yan Wu, Ruth Geraldes, Maciej Jurynczyk, Jacqueline Palace
Summary: Most patients with neuromyelitis optica spectrum disorders (NMOSD) test positive for Aquaporin-4 antibody (AQP4-IgG) or myelin oligodendrocyte glycoprotein antibodies (MOG-IgG). Those who are negative, known as double-negative (DN) NMOSD, can be challenging to diagnose and treat. DN NMOSD is not a single disease but rather a syndrome with a range of manifestations, sometimes resembling AQP4-IgG+ NMOSD or other conditions like multiple sclerosis. The underlying disease mechanisms are likely heterogeneous.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Clinical Neurology
David Berhanu, Miguel Leal Rato, Silvia Messina, Maria Isabel Leite, Ruth Geraldes, Jacqueline Palace
Summary: This study found that smoking affects the resolution of magnetic resonance imaging (MRI) lesions in patients with neuromyelitis optica spectrum disorders with aquaporin-4 positive antibody (NMOSD-AQP4) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). In addition, MRI lesion resolution is correlated with clinical recovery.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Review
Clinical Neurology
David Berhanu, Miguel Leal Rato, Ana Isabel Canhoto, Joao Vieira da Cunha, Ruth Geraldes
Summary: People with Multiple Sclerosis (pwMS) commonly search for information online about their disease, especially younger patients, those with shorter disease duration, primary progressive MS, and during periods of disease worsening. However, there are concerns about the quality of the information found and only a minority of pwMS discuss the information with their physicians.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2023)