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Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults

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Key Points Question Is there an autoantibody biomarker of immune-mediated rippling muscle disease (iRMD)? Findings In this cohort study, autoantibodies to caveolae-associated protein 4 (cavin-4) were identified and orthogonally validated… Click to show full abstract

Key Points Question Is there an autoantibody biomarker of immune-mediated rippling muscle disease (iRMD)? Findings In this cohort study, autoantibodies to caveolae-associated protein 4 (cavin-4) were identified and orthogonally validated in 8 of 10 patients with iRMD; results for all healthy and disease-control individuals were seronegative. Immunohistochemical studies demonstrated depletion of cavin-4 expression in biopsied iRMD skeletal muscle. Meaning The findings suggest that seropositivity for cavin-4 IgG, the first specific serological biomarker discovered for iRMD, may support an autoimmune pathogenesis for this clinical and immunohistopathologic entity.

Keywords: biomarker immune; disease; immune mediated; muscle; mediated rippling; rippling muscle

Journal Title: JAMA Neurology
Year Published: 2022

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