{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T08:46:01Z","timestamp":1792226761961,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,7,11]],"date-time":"2018-07-11T00:00:00Z","timestamp":1531267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Pain"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mutations in the sodium\u2010channel Na<jats:sub>v<\/jats:sub>1.7, encoded by the gene <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>9A<\/jats:italic>, are known to cause pain disorders. In particular, gain\u2010of\u2010function missense mutations in Na<jats:sub>v<\/jats:sub>1.7 have been shown to be causal in primary erythromelalgia. We present a patient with erythromelalgia, pain attacks and hyperosmia with a mutation within the sodium\u2010channel gene <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>9A<\/jats:italic>. A 50\u2010year\u2010old woman presented with burning pain in both feet and abdominal pain attacks developed over the course of 10\u00a0years. Furthermore, this patient experienced a hypersensitivity for odours. Clinical investigation as well as serum\/cerebrospinal fluid laboratory findings and electrophysiological testing were unremarkable. Olfactory testing showed high olfactory acuity for all screened modalities and good intranasal sensitivity. Furthermore, quantitative sensory testing within the trigeminal area revealed very low thresholds for thermal, tactile and pain detection. In addition, quantitative sensory testing at the lower legs showed hyperalgesia and, as the disease progresses, thermal sensory function loss. Skin biopsies of the proximal and distal lower limbs revealed reduced epidermal nerve fibre density indicating small fibre neuropathy. Genetic analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>9A<\/jats:italic> gene demonstrated a heterozygous mutation in Exon 20 \u2013 c.3734A&gt;G (p.N1245S). Treatment with clinically available sodium\u2010channel inhibitors did not result in significant pain relief. Local application of the sodium\u2010channel blocker ambroxol however, reduced pain intensity. Continuous odour exposure stabilised mood and induced a short\u2010term pain relief. This clinical note illustrates the course of middle\u2010age onset erythromelalgia and points to clinical findings related to a likely pathogenic missense mutation affecting the sodium\u2010channel Na<jats:sub>v<\/jats:sub>1.7.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>This case report illustrates the course of middle\u2010age onset erythromelalgia with presumed gain\u2010of\u2010function in olfactory and pain sensation associated with a Nav1.7 channel mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ejp.1272","type":"journal-article","created":{"date-parts":[[2018,6,23]],"date-time":"2018-06-23T08:49:52Z","timestamp":1529743792000},"page":"1767-1773","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Mutation in Na<sub>v<\/sub>1.7 causes high olfactory sensitivity"],"prefix":"10.1002","volume":"22","author":[{"given":"A.","family":"Haehner","sequence":"first","affiliation":[{"name":"Smell &amp; Taste Clinic Department of Otorhinolaryngology TU Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Hummel","sequence":"additional","affiliation":[{"name":"Smell &amp; Taste Clinic Department of Otorhinolaryngology TU Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Heinritz","sequence":"additional","affiliation":[{"name":"\u00dcBAG for Human Genetics Oberelbe\/Spree Cottbus\/Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Krueger","sequence":"additional","affiliation":[{"name":"\u00dcBAG for Human Genetics Oberelbe\/Spree Cottbus\/Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Meinhardt","sequence":"additional","affiliation":[{"name":"Department of Pathology TU Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. 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