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Peripheral neuropathies

Sodium channel variants linked to symptom phenotype in SFN

Nature Reviews Neurology volume 8, page 473 (2012)Cite this article

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In their previous investigations, Waxman and colleagues identifed mutations in Nav1.7—a channel that is preferentially expressed in peripheral neurons—in ∼30% of their cohort with SFN. Most of these patients experienced severe autonomic dysfunction as well as pain; however, two patients, both of whom had an Arg185His mutation in Nav1.7, displayed only minor autonomic symptoms. “We decided to compare the detailed electrophysiology and biophysics of the Arg185His mutation with a comparator mutation, Ile739Val, found in patients with severe autonomic dysfunction,” explains Waxman.

The researchers transfected rodent-derived dorsal root ganglion (DRG) neurons and sympathetic ganglion neurons with either of the two Nav1.7 mutants or wild-type Nav1.7, and performed functional analysis of the transfected cells using voltage-clamp and current-clamp electrophysiology. DRG neurons expressing the Arg185His mutant displayed increased excitability, but an unchanged resting potential. The DRG neurons transfected with the Ile739Val mutant were also hyperexcitable, but had depolarized resting potentials.

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ORIGINAL RESEARCH PAPER

  1. Han, C. et al. Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy. Brain doi:10.1093/brain/aws187

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  1. Katy Malpass
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Malpass, K. Sodium channel variants linked to symptom phenotype in SFN. Nat Rev Neurol 8, 473 (2012). https://doi.org/10.1038/nrneurol.2012.171

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  • DOI: https://doi.org/10.1038/nrneurol.2012.171

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