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Neuro-inflammation
Research paper
Clinical and immunological characteristics of the spectrum of GFAP autoimmunity: a case series of 22 patients
  1. Raffaele Iorio1,
  2. Valentina Damato1,
  3. Amelia Evoli1,
  4. Marco Gessi2,
  5. Simona Gaudino3,
  6. Vincenzo Di Lazzaro4,
  7. Gregorio Spagni1,
  8. Jacqueline A Sluijs5,
  9. Elly M Hol5,6
  1. 1 Department of Neuroscience, Istituto di Neurologia, Fondazione Policlinico Universitario ‘Agostino Gemelli’, Università Cattolica del Sacro Cuore, Rome, Italy
  2. 2 Institute of Pathology, Fondazione Policlinico Universitario ‘Agostino Gemelli’, Università Cattolica del Sacro Cuore, Rome, Italy
  3. 3 Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario ‘Agostino Gemelli’, Università Cattolica del Sacro Cuore, Rome, Italy
  4. 4 Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio.Medico di Roma, Rome, Italy
  5. 5 Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands
  6. 6 Institute for Neuroscience, An Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
  1. Correspondence to Dr Raffaele Iorio, Department of Neuroscience, Institute of Neurology, Fondazione Policlinico Universitario ‘A. Gemelli’, Università Cattolica del Sacro Cuore, Rome 00168, Italy; raffaele.iorio{at}policlinicogemelli.it

Abstract

Objective To report the clinical and immunological characteristics of 22 new patients with glial fibrillar acidic protein (GFAP) autoantibodies.

Methods From January 2012 to March 2017, we recruited 451 patients with suspected neurological autoimmune disease at the Catholic University of Rome. Patients’ serum and cerebrospinal fluid (CSF) samples were tested for neural autoantibodies by immunohistochemistry on mouse and rat brain sections, by cell-based assays (CBA) and immunoblot. GFAP autoantibodies were detected by immunohistochemistry and their specificity confirmed by CBA using cells expressing human GFAPα and GFAPδ proteins, by immunoblot and immunohistochemistry on GFAP-/- mouse brain sections.

Results Serum and/or CSF IgG of 22/451 (5%) patients bound to human GFAP, of which 22/22 bound to GFAPα, 14/22 to both GFAPα and GFAPδ and none to the GFAPδ isoform only. The neurological presentation was: meningoencephalomyelitis or encephalitis in 10, movement disorder (choreoathetosis or myoclonus) in 3, anti-epileptic drugs (AED)-resistant epilepsy in 3, cerebellar ataxia in 3, myelitis in 2, optic neuritis in 1 patient. Coexisting neural autoantibodies were detected in five patients. Six patients had other autoimmune diseases. Tumours were found in 3/22 patients (breast carcinoma, 1; ovarian carcinoma, 1; thymoma, 1). Nineteen patients were treated with immunotherapy and 16 patients (84%) improved. Histopathology analysis of the leptomeningeal biopsy specimen from one patient revealed a mononuclear infiltrate with macrophages and CD8+ T cells.

Conclusions GFAP autoimmunity is not rare. The clinical spectrum encompasses meningoencephalitis, myelitis, movement disorders, epilepsy and cerebellar ataxia. Coexisting neurological and systemic autoimmunity are relatively common. Immunotherapy is beneficial in most cases.

  • autoimmune neurology
  • autoimmune encephalitis
  • autoantibodies
  • astrocytes
  • meningoencephalitis

https://doi.org/10.1136/jnnp-2017-316583

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    Footnotes

    • Contributors RI: study concept and design, acquisition of data, analysis and interpretation of data, drafting of the manuscript. VD, AE, MG, SG, VDL, GS, JAS: acquisition of data, analysis and interpretation of data. EMH: acquisition of data, analysis and interpretation of data, critical revision of manuscript for intellectual content.

    • Competing interests None declared.

    • Ethics approval Ethic Committee of the Università Cattolica del Sacro Cuore, Rome Italy.

    • Provenance and peer review Not commissioned; externally peer reviewed.