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Introduction: The COVID-19 pandemic has been presenting new challenges for medical schools worldwide.
Fabry disease (FD) is a systemic X-linked lysosomal disorder. A 'peripheral nerve variant' of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neuropathy patients with chronic polyneuropathy of undetermined aetiology and demyelinating neuropathy, unresponsive to immunomodulating treatment, were screened for FD.
View Article and Find Full Text PDFObjective: The present study was aimed to enlarge the Italian ALS sample analysed for TARDBP gene mutations.
Methods: Genomic DNA from 47 patients, 70 FTD patients and 158 controls was extracted from peripheral blood samples according to a standard protocol. The five coding exons (2-6) of the TARDBP gene and the flanking exon-intron boundaries were analysed by direct sequencing.
Objective: To describe the unique case of a patient with multiple sclerosis (MS) and anti-myelin-associated glycoprotein (MAG) polyneuropathy who developed MS relapses after treatment with rituximab.
Design: Case report.
Setting: Department of Neurosciences, Ophthalmology, and Genetics, University of Genova, Genova, Italy.