2022/06/12 by Scott D. Newsome, Tory P. Johnson · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · #Autoimmune Neurological Disorders and Treatments #Genetics and Neurodevelopmental Disorders #Cellular transport and secretion #Clinical phenotype #Medicine #Disease #Broad spectrum #Intensive care medicine #Physical medicine and rehabilitation #Bioinformatics #Phenotype #Pathology #Biology #Genetics
paper · pdf · doi:10.1016/j.jneuroim.2022.577915
openalex publication_date 2022/06/12 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/29
Stiff person syndrome spectrum disorders (SPSD) are a group of rare neuroimmunological disorders that often include painful spasms and rigidity. However, patients have highly heterogeneous signs and symptoms which may reflect different mechanistic disease processes. Understanding subsets of patients based on clinical phenotype may be important for prognosis and guiding treatment. The goal of this review is to provide updates on SPSD and its expanding clinical spectrum, prognostic markers, and treatment considerations. Further, we describe the current understanding in immunopathogenesis and highlight gaps in our knowledge appropriate for future research directions. Examples of revised diagnostic criteria for SPSD based on phenotype are also presented.