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December 2015; 2 (6) ArticleOpen Access

Myositis-specific autoantibodies are specific for myositis compared to genetic muscle disease

Andrew L. Mammen, Livia Casciola-Rosen, Lisa Christopher-Stine, Thomas E. Lloyd, Kathryn R. Wagner
First published November 19, 2015, DOI: https://doi.org/10.1212/NXI.0000000000000172
Andrew L. Mammen
From the National Institute of Arthritis and Musculoskeletal and Skin Diseases (A.L.M.), NIH, Bethesda; the Departments of Neurology (A.L.M., L.C.-S., T.E.L., K.R.W.), Medicine (L.C.-R., L.C.-S.), and Neuroscience (T.E.L., K.R.W.), Johns Hopkins University School of Medicine, Baltimore; and The Hugo W. Moser Research Institute (K.R.W.), Kennedy Krieger, Baltimore, MD.
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Livia Casciola-Rosen
From the National Institute of Arthritis and Musculoskeletal and Skin Diseases (A.L.M.), NIH, Bethesda; the Departments of Neurology (A.L.M., L.C.-S., T.E.L., K.R.W.), Medicine (L.C.-R., L.C.-S.), and Neuroscience (T.E.L., K.R.W.), Johns Hopkins University School of Medicine, Baltimore; and The Hugo W. Moser Research Institute (K.R.W.), Kennedy Krieger, Baltimore, MD.
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Lisa Christopher-Stine
From the National Institute of Arthritis and Musculoskeletal and Skin Diseases (A.L.M.), NIH, Bethesda; the Departments of Neurology (A.L.M., L.C.-S., T.E.L., K.R.W.), Medicine (L.C.-R., L.C.-S.), and Neuroscience (T.E.L., K.R.W.), Johns Hopkins University School of Medicine, Baltimore; and The Hugo W. Moser Research Institute (K.R.W.), Kennedy Krieger, Baltimore, MD.
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Thomas E. Lloyd
From the National Institute of Arthritis and Musculoskeletal and Skin Diseases (A.L.M.), NIH, Bethesda; the Departments of Neurology (A.L.M., L.C.-S., T.E.L., K.R.W.), Medicine (L.C.-R., L.C.-S.), and Neuroscience (T.E.L., K.R.W.), Johns Hopkins University School of Medicine, Baltimore; and The Hugo W. Moser Research Institute (K.R.W.), Kennedy Krieger, Baltimore, MD.
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Kathryn R. Wagner
From the National Institute of Arthritis and Musculoskeletal and Skin Diseases (A.L.M.), NIH, Bethesda; the Departments of Neurology (A.L.M., L.C.-S., T.E.L., K.R.W.), Medicine (L.C.-R., L.C.-S.), and Neuroscience (T.E.L., K.R.W.), Johns Hopkins University School of Medicine, Baltimore; and The Hugo W. Moser Research Institute (K.R.W.), Kennedy Krieger, Baltimore, MD.
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Citation
Myositis-specific autoantibodies are specific for myositis compared to genetic muscle disease
Andrew L. Mammen, Livia Casciola-Rosen, Lisa Christopher-Stine, Thomas E. Lloyd, Kathryn R. Wagner
Neurol Neuroimmunol Neuroinflamm Dec 2015, 2 (6) e172; DOI: 10.1212/NXI.0000000000000172

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Abstract

Objective: To determine the specificity of myositis-specific autoantibodies (MSAs) for autoimmune myopathy compared with inherited muscle diseases.

Methods: Serum samples from 47 patients with genetically confirmed inherited muscle diseases were screened for the most common MSAs, including those recognizing TIF1γ, NXP2, Mi2, MDA5, Jo1, SRP, and HMGCR. We compared these results with the findings in a cohort of patients with dermatomyositis (DM) previously screened for anti-TIF1γ, -NXP2, -Mi2, -MDA5, and -Jo1.

Results: Overall, the presence of anti-TIF1γ, -NXP2, -Mi2, -MDA5, or -Jo1 was 96% specific and 67% sensitive for DM compared to patients with genetic muscle diseases. No patients with inherited muscle disease had anti-SRP or anti-HMGCR autoantibodies. Only 2 patients with genetic muscle disease had a MSA. One patient with anti-Mi2 autoantibodies had both genetically confirmed facioscapulohumeral dystrophy and dermatomyositis based on a typical skin rash and partial response to immunosuppressive medications. A second patient with anti-Jo-1 autoantibodies had both genetically defined limb-girdle muscular dystrophy type 2A (i.e., calpainopathy) and a systemic autoimmune process based on biopsy-confirmed lupus nephritis, sicca symptoms, and anti-Ro52 autoantibodies.

Conclusions: The MSAs tested for in this study are highly specific for autoimmune muscle disease and are rarely, if ever, found in patients who only have genetic muscle disease. In patients with genetic muscle disease, the presence of a MSA should suggest the possibility of a coexisting autoimmune process.

GLOSSARY

DM=
dermatomyositis;
FSHD=
facioscapulohumeral dystrophy;
HMGCR=
HMG-CoA reductase;
IMNM=
immune-mediated necrotizing myopathy;
IVTT=
in vitro transcription and translation;
LGMD=
limb-girdle muscular dystrophies;
MSA=
myositis-specific autoantibody;
PM=
polymyositis

Footnotes

  • Funding information and disclosures are provided at the end of the article. Go to Neurology.org/nn for full disclosure forms. The Article Processing Charge was paid by the authors.

  • Received June 26, 2015.
  • Accepted in final form September 16, 2015.
  • © 2015 American Academy of Neurology

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.

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