SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.
Neurol Genet
; 4(4): e255, 2018 Aug.
Article
em En
| MEDLINE
| ID: mdl-30046661
ABSTRACT
OBJECTIVE:
The SCN11A gene encodes the NaV1.9 sodium channel found exclusively in peripheral nociceptive neurons.METHODS:
All enrolled participants were evaluated clinically by electrophysiologic studies, DNA sequencing, and punch skin biopsies.RESULTS:
All affected family members are afflicted by episodes of pain. Pain was predominantly nociceptive, but not neuropathic in nature, which led a diagnosis of fibromyalgia in some patients. All patients had normal findings in nerve conduction studies for detecting large nerve fiber neuropathies and skin biopsies for detecting small nerve fiber pathology.CONCLUSIONS:
Unlike those patients with missense mutations in SCN11A, small fiber sensory neuropathy, and neuropathic pain, the Arg225Cys SCN11A in the present study causes predominantly nociceptive pain with minimal features of neuropathic pain and undetectable pathophysiologic changes of peripheral neuropathy. This finding is consistent with dysfunction of nociceptive neurons. In addition, since nociceptive pain in patients has led to the diagnosis of fibromyalgia, this justifies a future search of mutations of SCN11A in patients with additional pain phenotypes such as fibromyalgia to expand the clinical spectrum beyond painful small fiber sensory neuropathy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Etiology_studies
Idioma:
En
Revista:
Neurol Genet
Ano de publicação:
2018
Tipo de documento:
Article