SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
| Autor: | Lan Zhou, John S. Sergent, Christopher P. Lee, Vignesh Ravi, Derek Huang, Jun Li, Megan Simmons, Ryan Castoro |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty business.industry Nerve fiber medicine.disease Article Pathophysiology 3. Good health Peripheral 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Nociception Peripheral neuropathy medicine.anatomical_structure Fibromyalgia Neuropathic pain medicine Missense mutation Neurology (clinical) business 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Neurology: Genetics |
| ISSN: | 2376-7839 |
| DOI: | 10.1212/nxg.0000000000000255 |
| Popis: | ObjectiveThe SCN11A gene encodes the NaV1.9 sodium channel found exclusively in peripheral nociceptive neurons.MethodsAll enrolled participants were evaluated clinically by electrophysiologic studies, DNA sequencing, and punch skin biopsies.ResultsAll 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.ConclusionsUnlike 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. |
| Databáze: | OpenAIRE |
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