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The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review.
Front Immunol
January 2025
Department of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, China.
Autoimmune polyendocrine syndromes (APS) is a rare group of disorders caused by impaired function of multiple endocrine glands due to disruption of immune tolerance. Of which, type 2 (APS-2) is the most common. Glutamic acid decarboxylase (GAD) is the rate-limiting enzyme for the synthesis of gamma-aminobutyric acid (GABA).
View Article and Find Full Text PDFEfficacy of apheresis in antibody-negative progressive encephalomyelitis with rigidity and myoclonus.
Ther Apher Dial
January 2025
Department of Neurology, Wakayama Medical University, Wakayama, Japan.
Introduction: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is characterized by brainstem symptoms, muscle rigidity, and myoclonus. While autoantibodies to inhibitory neurons have been associated with the pathology, about 30% of cases are negative for autoantibodies. There are few reported cases of antibody-negative PERM and its clinical course and prognosis are unknown.
View Article and Find Full Text PDFImpaired Presynaptic Function Contributes Significantly to the Pathology of Glycine Receptor Autoantibodies.
Neurol Neuroimmunol Neuroinflamm
March 2025
Institute for Clinical Neurobiology, University Hospital, Julius-Maximilians-University of Würzburg, Germany.
Background And Objectives: Autoantibodies (aAbs) against glycine receptors (GlyRs) are mainly associated with the rare neurologic diseases stiff person syndrome (SPS) and progressive encephalomyelitis with rigidity and myoclonus (PERM). GlyR aAbs are also found in other neurologic diseases such as epilepsy. The aAbs bind to different GlyR α-subunits and, more rarely, also to the GlyR β-subunit.
View Article and Find Full Text PDFEfficacy of Surgical Treatment for Thymoma-Related Stiff Person Syndrome.
Ann Thorac Surg Short Rep
September 2024
Department of General Thoracic Surgery, Juntendo University School of Medicine, Tokyo, Japan.
Stiff person syndrome (SPS) is a neurologic disorder, some cases of which are associated with malignant disease. Here, we report a case of thymoma-associated SPS that was successfully treated with surgical resection. A 57-year-old man with progressive muscle stiffness and weakness was diagnosed with thymoma-related SPS.
View Article and Find Full Text PDFExtracorporeal photopheresis in stiff person syndrome.
Front Immunol
December 2024
Department of Neurology, Specialized Rehabilitation Hospital/Capital Health, Abu Dhabi, United Arab Emirates.
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