Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene. (April 2016)

• Record Type: Journal Article
• Authors: Dabby, Ron; Sadeh, Menachem; Broitman, Yelena; Yosovich, Keren; Dickman, Ram; Leshinsky-Silver, Esther
• Is Part Of: Journal of clinical neuroscience. Volume 26(2016:Apr.)
• Page Start: 84
• Page End: 88
• Publication Date: 2016-04
• Subjects: Autonomic neuropathy -- Gastroparesis -- Nav1.8 sodium channel -- Neuropathic pain -- SCN10A -- Small fiber neuropathy; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2015.05.071
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: Mutations in the Nav 1.8 sodium channel may cause painful sensory neuropathy. Gastroparesis may be a part of the clinical spectrum of Nav 1.8 mutations. Painful neuropathy with GI motility dysfunction may suggest Nav 1.8 channelopathy. Abstract: Gain-of-function mutations in the SCN10A gene (encoding the Nav 1.8 voltage gated sodium channel) have been reported in a small number of patients. All presented with predominantly painful sensory neuropathy, congruent with the expression of Nav 1.8 in nociceptive sensory neurons of the dorsal root ganglion. Only a few had mild autonomic symptoms, including dry eyes and mouth, orthostatic dizziness, palpitations, diarrhea and constipation. The underlying mechanism of the autonomic symptoms in these patients is unclear. We describe a 37-year-old woman with severe progressive gastroparesis and diffuse painful small fiber sensory neuropathy that started at age 32. Due to the severe dysphagia she could not ingest solid food, and lost eight kilograms. The gastroparesis was documented by esophageal manometry and gastric scintigraphy. The neuropathic pain started distally and then intensified and spread to most body areas. The patient harbored a novel heterozygous mutation: c.G4915A:p.D1639N in the SCN10A gene. To the best of our knowledge, this is the first description of such a phenotype due to a Nav 1.8 mutation. Thus, our study expands the clinical spectrum of Nav 1.8 associated disorders, and suggests that mutations in this sodium channel should be considered in patients with gastrointestinal motility dysfunction and painful neuropathy.