Glial Fibrillary Acidic Protein Autoimmunity: A French Cohort Study.

BACKGROUND AND OBJECTIVES: To report the clinical, biological, and imaging features and clinical course of a French cohort of patients with glial fibrillary acidic protein (GFAP) autoantibodies. METHODS: We retrospectively included all patients who tested positive for GFAP antibodies in the CSF by immunohistochemistry and confirmed by cell-based assay using cells expressing human GFAPα since 2017 from 2 French referral centers. RESULTS: We identified 46 patients with GFAP antibodies. Median age at onset was 43 years, and 65% were men. Infectious prodromal symptoms were found in 82%. Other autoimmune diseases were found in 22% of patients, and coexisting neural autoantibodies in 11%. Tumors were present in 24%, and T-cell dysfunction in 23%. The most frequent presentation was subacute meningoencephalitis (85%), with cerebellar dysfunction in 57% of cases. Other clinical presentations included myelitis (30%) and visual (35%) and peripheral nervous system involvement (24%). MRI showed perivascular radial enhancement in 32%, periventricular T2 hyperintensity in 41%, brainstem involvement in 31%, leptomeningeal enhancement in 26%, and reversible splenial lesions in 4 cases. A total of 33 of 40 patients had a monophasic course, associated with a good outcome at last follow-up (Rankin Score ≤2: 89%), despite a severe clinical presentation. Adult and pediatric features are similar. Thirty-two patients were treated with immunotherapy. A total of 11/22 patients showed negative conversion of GFAP antibodies. DISCUSSION: GFAP autoimmunity is mainly associated with acute/subacute meningoencephalomyelitis with prodromal symptoms, for which tumors and T-cell dysfunction are frequent triggers. The majority of patients followed a monophasic course with a good outcome.

Epilepsy in the Sanaga-Mbam valley, an onchocerciasis-endemic region in Cameroon: electroclinical and neuropsychological findings.

OBJECTIVE: Epilepsy is highly prevalent in onchocerciasis-endemic African regions. Various types of epilepsy have been described in such regions based essentially on clinical characteristics. METHODS: We conducted a clinical, neurophysiological and neuropsychological study of epilepsy in the onchocerciasis-endemic region of Ntui, Sanaga-Mbam area, Cameroon. RESULTS: One hundred and eighty-seven persons with presumed epilepsy were recruited in an epilepsy clinic in Ntui. Epilepsy was clinically confirmed in 144 (79%) subjects, 69 (46.0%) of them met the onchocerciasis-associated epilepsy (OAE) criteria, and 51 of 106 tested (48.1%) presented Ov16 antibodies. Electroencephalograms (EEG) were recorded in 91 participants, of which 36 (33%) were considered abnormal and 27 of 36 (75%) revealed bifrontotemporal spike and slow waves. Concerning the neuropsychological evaluation, 29% showed severe global cognitive impairment, 28% severe episodic memory impairment, and 66% severe frontal cognitive impairment. Half of the persons with epilepsy (PWE) suffered from a mental disorder. SIGNIFICANCE: In PWE in the Sanaga-Mbam area in Cameroon, we observed EEG patterns similar to those described among persons with OAE, including nodding syndrome in other onchocerciasis-endemic areas. Most PWE presented with severe cognitive impairment. We hypothesize that onchocerciasis may induce neurocognitive disorders and epilepsy via a mechanism that involves mainly the frontal and temporal regions of the brain.

Area postrema syndrome: Another feature of anti-GFAP encephalomyelitis.

Anti-Glial fibrillary acidic protein (GFAP) encephalomyelitis is a recently described entity and while the spectrum of this disease has been explored, further research is needed to fully describe its phenotype. Area postrema syndrome (APS) is usually associated with neuromyelitis optica spectrum disorders (NMOSDs), whereas no case of APS has been previously reported with anti-GFAP encephalomyelitis. In this article, we report a case of APS in a 41-year-old woman in the context of anti-GFAP encephalomyelitis. This case was not associated with additional anti-AQP4 IgG and therefore extends the clinico-radiological spectrum of anti-GFAP encephalomyelitis.