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.

Natalizumab and drug holiday in clinical practice: an observational study in very active relapsing remitting multiple sclerosis patients.

Background: In order to reduce the risk of progressive multifocal leucoencephalopathy when using natalizumab for more than 12 months, a 6-month drug holiday has been discussed. However, the consequences on short term disease activity have been poorly assessed.

Objective: The aim of this study was to assess clinical and radiological disease activity within 6 months after stopping natalizumab in very active relapsing remitting Multiple Sclerosis (RRMS) patients.

[Acute encephalitis concurrent with primary infection by Schistosoma mansoni].

A 24-year-old man returning from a trip to Mali was hospitalized for acute encephalitis and fever in association with acute primary infection by Schistosomiasis mansoni. Bilharziasis was suspected from the epidemiological context and presence of eosinophilia. Diagnosis was confirmed by serological testing.

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine.