{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:23:54Z","timestamp":1740126234752,"version":"3.37.3"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T00:00:00Z","timestamp":1531699200000},"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":["Neuropathology"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:p>Mutations in the Mitofusin 2 (MFN2) gene have been identified in patients with autosomal dominant axonal motor and sensory neuropathy or Charcot\u2013Marie\u2010Tooth 2A (CMT2A). Here we describe clinical and pathological changes in an adult patient with sporadic hereditary sensory and autonomic neuropathy (HSAN) due to an<jats:italic>MFN2<\/jats:italic>mutation. The patient was a 53\u2010year\u2010old man who had sensory involvement and anhidrosis in all limbs without motor features. The electrophysiological assessment documented severe axonal sensory neuropathy. The sural nerve biopsy confirmed the electrophysiological findings, revealing severe loss of myelinated and unmyelinated fibers with regeneration clusters. Genetic analysis revealed the previously identified mutation c.776\u2009G\u2009&gt;\u2009A in<jats:italic>MFN2<\/jats:italic>. Our report expands the phenotypic spectrum of<jats:italic>MFN2<\/jats:italic>\u2010related diseases. Sequencing of<jats:italic>MFN2<\/jats:italic>should be considered in all patients presenting with late\u2010onset HSAN.<\/jats:p>","DOI":"10.1111\/neup.12487","type":"journal-article","created":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T14:23:22Z","timestamp":1531751002000},"page":"463-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Late\u2010onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of<i>MFN2<\/i>\u2010related diseases"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6597-7395","authenticated-orcid":false,"given":"Rui","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First 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