Autoimmune GFAP Astrocytopathy
Conditions
Keywords
Acidic Protein IgG, astrocytopathy, meningoencephalomyelitis, perivascular-radial parenchymal enhancement, autoimmune, paraneoplasic
Brief summary
Glial fibrillary acidic protein (GFAP)-Immunoglobulin G (IgG) have recently been described as a biomarker of a novel inflammatory central nervous system (CNS) disorder, termed autoimmune GFAP astrocytopathy. Thus far, four major clinical series have been published (two from Mayo Clinic USA, one from Italy and one from China). GFAP-IgG detected in serum or in cerebrospinal fluid, by tissue-based assay and confirmed by cell-based assay, are associated with encephalitis or meningoencephalitis of acute or subacute onset, less frequently with myelitis or optic disk edema. The characteristic MRI feature is brain linear perivascular radial gadolinium enhancement in the white matter perpendicular to the ventricle, consistent with the immunohistochemical staining pattern of GFAP in rodent brain sections. Approximately 20% of reported cases are associated with a neoplasm (ovarian teratoma mostly). Coexisting neural autoantibodies are described in some patients, N-methyl-D-aspartate (NMDA)-receptor (R)-IgG mostly, followed by aquaporin 4 (AQP4)-IgG. The disease is usually corticosteroid responsive although relapse can occur. In contrast, Chinese patients display poorer outcomes. Pathophysiology is not well understood but the intracellular antigen location makes GFAP-IgG unlikely pathogenic whereas animal models and neuropathologic data suggest a T-cell immune-mediated disorder. The aim of the investigators is to report the first French cohort of patients GFAP-IgG positive. Investigators retrospectively assessed clinical, immunological and radiological features, treatment response and outcomes.
Interventions
Retrospective, non-interventional study, using clinical, biological, radiological and therapeutic data collected during the initial diagnosis and follow-up.
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Positive GFAP-Ab in serum and/or CSF tested by immunohistochemistry on mouse brain slices and confirmed by cell-based assay (CBA) of HEK293 cells expressing GFAP. * Diagnosis and follow-up in France * No age limit : from 0 to unlimited age
Exclusion criteria
* Patients GFAP-IgG negative in serum and CSF * Absence of complete clinicopathological data * Foreign follow-up
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Report retrospectively clinical data of patients GFAP-IgG positive. | 13 months | Describe prodromes (yes or no), neurologic signs and clinical course (acute/subacute - yes or no - or progressive onset - yes or no), if admitted in intensive care units (yes or no), retrospectively provided by the treating physicians using a structured questionnaire.or progressive onset), if admitted in intensive care units, neoplastic and dysimmune associated diseases and T cell dysregulation condition . |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Describe GFAP-antibody test results. | 13 months | positivity of GFAP α -IgG in cerebrospinal fluid, in serum and isoform type at diagnostic and follow up. positivity of GFAP α -IgG in cerebrospinal fluid, in serum and isoform type at diagnostic and follow up. |
| demographic data of patients GFAP-IgG positive : age at onset | 13 months | age at onset (years) retrospectively provided by the treating physicians using a structured questionnaire |
Other
| Measure | Time frame | Description |
|---|---|---|
| Report cerebrospinal fluid white cell count | 13 months | white cell count (/mm3) |
| Report cerebrospinal fluid protein level | 13 months | protein level (g/L) |
| Report cerebrospinal fluid glucose level | 13 months | glucose level (mmol/L) |
| Report number of oligoclonal bands in cerebrospinal fluid | 13 months | number of oligoclonal bands |
| Describe MRI features. | 13 months | Head and medullar MRI at diagnostic and follow up were reviewed by a neuroradiologist. scale) at each relapse and last follow up. |
| Report other paraclinic findings : electroencephalographic results. | 13 months | Describe electroencephalographic results at diagnostic and follow up when done . |
| Report other paraclinic findings : electromyographic results. | 13 months | Describe electromyographic results at diagnostic and follow up when done . |
| demographic data of patients GFAP-IgG positive : phenotype | 13 months | Report if caucasian (yes or no) retrospectively provided by the treating physicians using a structured questionnaire |
| Report ophthalmic exam : ocular fundus. | 13 months | Describe ocular fundus at diagnostic and follow up results when done . |
| Report ophthalmic exam : visual field. | 13 months | Describe visual field at diagnostic and follow up when done . |
| Report ophthalmic exam : optical coherence tomography. | 13 months | Describe optical coherence tomography (RNFL thickness) at diagnostic and follow up when done . |
| Report histologic findings. | 13 months | Describe histologic results at diagnostic and follow up when done . |
| Report treatments and response. | 13 months | Describe acute and long-term treatments administered and response. |
| Report outcome. | 13 months | Describe outcome (modified Rankin scale) at each relapse and last follow up. |
| Report ophthalmic exam : visual acuity | 13 months | Describe visual acuity (/10) at diagnostic and follow up when done . |
| demographic data of patients GFAP-IgG positive : sex | 13 months | Report if female sex (yes or no) retrospectively provided by the treating physicians using a structured questionnaire physicians using a structured questionnaire |
| associated conditions of patients GFAP-IgG positive | 13 months | Report if neoplastic and dysimmune associated diseases and T cell dysregulation condition (yes or no) physicians using a structured questionnaire physicians using a structured questionnaire |
Countries
France
Contacts
Primary ContactRomain MARIGNIER, Dr
Backup ContactGéraldine PICARD
Outcome results
None listed