[HTML][HTML] Axon transport and neuropathy: relevant perspectives on the etiopathogenesis of familial dysautonomia

WG Tourtellotte - The American Journal of Pathology, 2016 - Elsevier
The American Journal of Pathology, 2016Elsevier
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 …
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.
Elsevier