Contactin-associated protein-like 2 (CASPR2) autoantibodies are among those associated with several syndromes with effects on both the central and peripheral nervous systems including neuropathy and encephalitis and is most commonly seen in middle-aged to elderly males. We present a case of autoimmune encephalitis in a 14-month-old female presenting with altered mental status, refusal to bear weight, and hypertension in the setting of mercury exposure. This is the youngest reported case of CASPR2/LGI1/VGKC antibody associated autoimmune encephalitis stimulated by mercury exposure.
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http://dx.doi.org/10.1177/2329048X241227347 | DOI Listing |
Front Immunol
January 2025
Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche U1236, Université Rennes, Etablissement Français du Sang Bretagne, LabEx IGO, Rennes, France.
Introduction: Myeloid cells trafficking from the periphery to the central nervous system are key players in multiple sclerosis (MS) through antigen presentation, cytokine secretion and repair processes.
Methods: Combination of mass cytometry on blood cells from 60 MS patients at diagnosis and 29 healthy controls, along with single cell RNA sequencing on paired blood and cerebrospinal fluid (CSF) samples from 5 MS patients were used for myeloid cells detailing.
Results: Myeloid compartment study demonstrated an enrichment of a peculiar classical monocyte population in 22% of MS patients at the time of diagnosis.
Front Immunol
January 2025
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) caused by pathogenic immunoglobulin G antibodies to myelin oligodendrocyte glycoprotein is a rare demyelinating disease of the central nerve system (CNS). The clinical phenotypes of MOGAD include acute disseminated encephalomyelitis, optic neuritis, and transverse myelitis. At present, the mechanism underlying the disease is unknown.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Neurosciences, University of Padua, Padua, Italy.
Pediatric-Onset Multiple Sclerosis (POMS) is characterized by both white and grey matter inflammation, as well as by a higher risk of long-term physical and cognitive disability. The peculiar immunopathogenic mechanisms of POMS suggests that the use of induction therapies, including alemtuzumab (ALTZ), might be a promising approach, at least for postpuberal (> 11 yo) POMS. Although no data on the use of induction therapies in POMS are available from clinical trials currently, case series or case reports on the effect of alemtuzumab (ALTZ) have been recently published.
View Article and Find Full Text PDFMult Scler
January 2025
Department of Translational Biomedicine and Neurosciences, University of Bari Aldo Moro, Bari, Italy.
Eculizumab proved a strong anti-inflammatory effect in neuromyelitis optica spectrum disorders (NMOSD), rare autoimmune diseases affecting the central nervous system in which aquaporin 4-immunoglobulin G (AQP4-IgG) is the main pathogenic antibody. Pregnancy in NMOSD patients is considered at high-risk for neurological and gynecological outcomes, requiring a careful consideration about treatment maintenance. In this case report, we describe a successful pregnancy, resulting in the birth of a healthy child, in a young woman with AQP4-IgG-seropositive NMOSD who was maintained on eculizumab during all pregnancy.
View Article and Find Full Text PDFJ Neuroinflammation
January 2025
Department of Neurology, Center for Medical Research on Innovation and Translation, Institute of Clinical Medicine, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou, China.
Abnormality in transactivating response region DNA binding protein 43 (TDP43) is well-recognized as the pathological hallmark of neurodegenerative diseases. However, the role of TDP43 in neuromyelitis optica spectrum disorder (NMOSD) remains unknown. Here, our observations demonstrate an upregulation of TDP43 in both in vitro and in vivo models of NMOSD, as well as in biological samples from NMOSD patients.
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