title: Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.
abstract: Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons. Here, I review evidence to indicate that many genetic neuropathies are caused by abnormalities in axon transport. Moreover, in hereditary sensory and autonomic neuropathies. There may be specific convergence on gene mutations that disrupt nerve growth factor signaling, upon which sympathetic and sensory neurons critically depend.
authors.affiliation: Division of Neuropathology, Department of Pathology, and the Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. Electronic address: warren@northwestern.edu.
authors.forename: Warren G
authors.initials: WG
authors.lastname: Tourtellotte
mesh_terms: D001370:Axonal Transport / Q000235:genetics*; D004402:Dysautonomia, Familial / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008928:Mitochondria / Q000378:metabolism; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000503:physiopathology*; D015398:Signal Transduction / Q000235:genetics*