Ontology highlight
ABSTRACT: Objective
Pan-neurofascin nodopathy is a rare form of dysimmune neuropathies, mediated by antibodies against the common epitope of the 140, 155 and 186 neurofascin isoforms. These autoantibodies cause the defect of saltatory action potential spreading, disorganization of the nodal-paranodal ultrastructure, and axonal loss of variable degree.Methods
A 32-year old male presented with the typical symptom of acute onset severe tetraparesis. Electrophysiological findings indicated severe conduction failure, but no appreciable axonal loss. High-resolution ultrasound showed diffuse, but patchy pathology, including mild enlargement and abnormal fascicular structure in proximal arm nerves and the brachial plexus. Symptoms worsened despite plasma exchange, and showed only mild and tr
SUBMITTER: Milanovich D
PROVIDER: S-EPMC12529537 | biostudies-literature | 2025
REPOSITORIES: biostudies-literature