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 ...

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 ...

NSAID Diflunisal Slows Neurodegenerative Progression Early axonal dysfunction may be detected prior to the development of clinical symptoms of diabetic neuropathy. (HealthDay News) – Early axonal ...

Rockville, MD - The disease-modifying antirheumatic drug leflunomide (Arava, Aventis) is associated with peripheral neuropathy in some patients, say FDA researchers who reviewed 80 case reports ...

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 ...

Type B end-of-Phase 2 meeting with U.S. Food and Drug Administration (FDA) provided additional clarity for TSHA-120 for the treatment of giant axonal neuropathy (GAN) ultra-rare disease program -FDA ...

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 ...

Investigators at the National Institute of Biological Sciences in Beijing and China Agricultural University have identified mixed lineage kinase domain-like protein (MLKL) as an important player in ...