In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

ABSTRACT: Ion channel dysfunction causes a range of neurological disorders by altering transmembrane ion fluxes, neuronal or muscle excitability, and neurotransmitter release. Genetic neuronal channelopathies affecting peripheral axons provide a unique opportunity to examine the impact of dysfunction of a single channel subtype in detail in vivo. Episodic ataxia type 2 is caused by mutations in CACNA1A, which encodes the pore-forming subunit of the neuronal voltage-gated calcium channel Cav2.1. In peripheral motor axons, this channel is highly expressed at the presynaptic neuromuscular junction where it contributes to action potential-evoked neurotransmitter release, but it is not expressed mid-axon or thought to contribute to action potential generation. Eight patients from five families with genet

SUBMITTER: Tomlinson SE 

PROVIDER: S-EPMC4795516 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature