Association of small-fiber polyneuropathy with three previously unassociated rare missense SCN9A variants.
Kelley, Mary A, Oaklander, Anne Louise·Canadian journal of pain = Revue canadienne de la douleur·2020
This study describes two patients who developed small fiber nerve damage (affecting the smallest nerves in the body) and severe fatigue after infections. Both had immune system abnormalities and improved dramatically with immune-suppressing treatments. Genetic testing found rare changes in a gene called SCN9A that affects how nerve cells communicate. The findings suggest that genetic variations in this gene might play a role in some cases of small fiber nerve damage that respond to immune therapy.