{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T23:41:50Z","timestamp":1793317310731,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,10,9]],"date-time":"2019-10-09T00:00:00Z","timestamp":1570579200000},"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":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero\u2010mutilating complications. <jats:italic>FAM134B<\/jats:italic> gene, also known as <jats:italic>RETREG1<\/jats:italic> gene, mutations have been reported to be associated to HSAN\u2010IIB. We report four patients from two unrelated families who developed during childhood a sensory axonal neuropathy with variable severity and pronounced nociception impairment. Complications such as recurrent ulcerations, osteomyelitis, and osteonecrosis leading to distal amputation were noticed. Dysautonomia was mild or even absent in our group of patients. Additionally, either clinical or neurophysiological motor impairment was not uncommon. Presence of upper motor neuron signs was also a distinctive feature in two related patients. After extensive workup, two novel homozygous mutations in the <jats:italic>FAM134B<\/jats:italic> gene were identified. This report expands the clinical and genetic spectrum of HSAN type II and emphasizes the phenotype variability even within the same family.<\/jats:p>","DOI":"10.1111\/jns.12352","type":"journal-article","created":{"date-parts":[[2019,10,9]],"date-time":"2019-10-09T11:58:44Z","timestamp":1570622324000},"page":"354-358","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the <i>FAM134B<\/i> gene"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6194-9787","authenticated-orcid":false,"given":"Catarina","family":"Falc\u00e3o de Campos","sequence":"first","affiliation":[{"name":"Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vidailhet","sequence":"additional","affiliation":[{"name":"APHP, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re, Department of Neurology ICM and Sorbonne University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Genetics Department University Hospital, UMR 1253 iBrain, Inserm, Universit\u00e9 de Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alix","family":"de Becdeli\u00e8vre","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Henri Mondor, Department of Medical Genetics Universit\u00e9 Paris\u2010Est\u2010Cr\u00e9teil, Inserm UMR955  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beno\u00eet","family":"Funalot","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Henri Mondor, Department of 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