Giant axonal neuropathy. A neuropathological study.
Giant axonal neuropathy (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by visual impairment, corticospinal tract dysfunction, ataxia, and dementia. Pathological hallmarks of the disease include axonal swellings packed with neurofilaments in both peripheral and central nervous systems, and accumulations of intermediate filaments in Schwann cells, fibroblasts, melanocytes, endothelial, and Langerhans cells. Rosenthal fibers, sometimes appearing in masses and mimicking Alexander's disease, emerge as a conspicuous characteristic in longstanding GAN.
D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D001921:Brain / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007382:Intermediate Filaments / Q000648:ultrastructure; D008854:Microscopy, Electron; D009422:Nervous System Diseases / Q000150:complications / Q000473:pathology*; D013116:Spinal Cord / Q000648:ultrastructure