Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in GAN, the gene encoding gigaxonin. We ...

Hereditary axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under the name of Charcot–Marie–Tooth (CMT) disease type 2 (CMT2).

This rare genetic disorder may affect fewer than 100 people worldwide. You may experience difficulty walking or numbness in your arms and legs at first, but it can develop into more serious symptoms.

Discovery of the antigenic targets associated with nerve-specific autoimmune diseases is a crucial step in understanding their pathogenesis The identification of highly disease-specific autoantibodies ...

Kieseier and colleagues present a review of the literature on immune-mediated neuropathies, emphasizing the immunopathologic mechanisms underlying these neuropathies. Immune-mediated neuropathies have ...

This review provides a concise overview of the epidemiology, etiology, history, diagnostic criteria, and management of Charcot-Marie-Tooth disease. Charcot-Marie-Tooth (CMT) disease is a group of ...

Thirty-three patients with liver cirrhosis were investigated clinically and electrophysiologically. Nerve-conduction abnormalities were present in 24 (73%) patients compared with 71% reported in a ...

"Alterations in axonal membrane and channel function occur early in the disease course, prior to discernable large fibre involvement, and has the potential to be used as an early biomarker of ...

Prolonged, often disabling, small-fiber neuropathy in long COVID may be caused by a defective immune response, a small longitudinal study suggested. Peripheral neuropathy was identified in 59% of 17 ...