{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T00:35:30Z","timestamp":1793838930720,"version":"4.6.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T00:00:00Z","timestamp":1629158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T00:00:00Z","timestamp":1629158400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1007\/s10048-021-00668-z","type":"journal-article","created":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T18:02:54Z","timestamp":1629223374000},"page":"333-341","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study"],"prefix":"10.1007","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1012-9783","authenticated-orcid":false,"given":"Andoni","family":"Echaniz-Laguna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Altuzarra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta Gomez Garcia","family":"De La Banda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raluca Anca","family":"Tudorache","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Altynshash","family":"Jaxybayeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bakhytkul","family":"Myrzaliyeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriem","family":"Tazir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Vallat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Francou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon Andoni","family":"Urtizberea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,8,17]]},"reference":[{"key":"668_CR1","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1038\/ng0896-485","volume":"13","author":"Y Indo","year":"1996","unstructured":"Indo Y, Tsuruta M, Hayashida Y et al (1996) Mutations in the TRKA\/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 13:485\u2013488","journal-title":"Nat Genet"},{"key":"668_CR2","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1002\/humu.23123","volume":"38","author":"SS Shaikh","year":"2017","unstructured":"Shaikh SS, Chen YC, Halsall SA et al (2017) A Comprehensive functional analysis of NTRK1 missense mutations causing hereditary sensory and autonomic neuropathy type IV (HSAN IV). Hum Mutat 38:55\u201363","journal-title":"Hum Mutat"},{"key":"668_CR3","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1002\/ajmg.a.38120","volume":"173","author":"R Altassan","year":"2017","unstructured":"Altassan R, Saud HA, Masoodi TA et al (2017) Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. Am J Med Genet A 173:1009\u20131016","journal-title":"Am J Med Genet A"},{"key":"668_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.neubiorev.2018.01.013","volume":"87","author":"Y Indo","year":"2018","unstructured":"Indo Y (2018) NGF-dependent neurons and neurobiology of emotions and feelings: lessons from congenital insensitivity to pain with anhidrosis. Neurosci Biobehav Rev 87:1\u201316","journal-title":"Neurosci Biobehav Rev"},{"key":"668_CR5","unstructured":"Indo Y. NTRK1 Congenital Insensitivity to Pain with Anhidrosis. 2008 Aug 5 [updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132021."},{"key":"668_CR6","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1002\/humu.1224","volume":"18","author":"Y Indo","year":"2001","unstructured":"Indo Y (2001) Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Hum Mutat 18:462\u2013471","journal-title":"Hum Mutat"},{"key":"668_CR7","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1007\/s004399900205","volume":"106","author":"Y Miura","year":"2000","unstructured":"Miura Y, Mardy S, Awaya Y et al (2000) Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. Hum Genet 106:116\u2013124","journal-title":"Hum Genet"},{"key":"668_CR8","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1002\/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C","volume":"92","author":"S Shatzky","year":"2000","unstructured":"Shatzky S, Moses S, Levy J et al (2000) Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA\/NGF receptor gene, clinical findings, and results of nerve conduction studies. Am J Med Genet 92:353\u2013360","journal-title":"Am J Med Genet"},{"key":"668_CR9","doi-asserted-by":"publisher","first-page":"174480691878114","DOI":"10.1177\/1744806918781140","volume":"14","author":"X Geng","year":"2018","unstructured":"Geng X, Liu Y, Ren X et al (2018) Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. Mol Pain 14:1744806918781140","journal-title":"Mol Pain"},{"key":"668_CR10","doi-asserted-by":"publisher","first-page":"e13209","DOI":"10.1097\/MD.0000000000013209","volume":"97","author":"N Li","year":"2018","unstructured":"Li N, Sun J, Guo S et al (2018) Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report. Medicine (Baltimore) 97:e13209","journal-title":"Medicine (Baltimore)"},{"key":"668_CR11","doi-asserted-by":"publisher","first-page":"453","DOI":"10.2147\/JPR.S188566","volume":"12","author":"N Li","year":"2019","unstructured":"Li N, Guo S, Wang Q et al (2019) Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis. J Pain Res 12:453\u2013465","journal-title":"J Pain Res"},{"key":"668_CR12","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1111\/ene.14234","volume":"27","author":"F Zhao","year":"2020","unstructured":"Zhao F, Mao B, Geng X et al (2020) Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis. Eur J Neurol 27:1697\u20131705","journal-title":"Eur J Neurol"},{"key":"668_CR13","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1016\/j.gene.2018.09.009","volume":"679","author":"WB Wang","year":"2018","unstructured":"Wang WB, Cao YJ, Lyu SS et al (2018) Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). Gene 679:253\u2013259","journal-title":"Gene"},{"key":"668_CR14","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1111\/jns.12205","volume":"22","author":"TS Nam","year":"2017","unstructured":"Nam TS, Li W, Yoon S et al (2017) Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. J Peripher Nerv Syst 22:92\u201399","journal-title":"J Peripher Nerv Syst"},{"key":"668_CR15","unstructured":"VarSome: The human genomic variant search engine. Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E. Chapple, Monica Albarca Aguilera, Richard Meyer, and Andreas Massouras. Oxford Bioinformatics, bty897, 30 October 2018."},{"key":"668_CR16","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.nmd.2007.10.005","volume":"18","author":"K Huehne","year":"2008","unstructured":"Huehne K, Zweier C, Raab K et al (2008) Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. Neuromuscul Disord 18:159\u2013166","journal-title":"Neuromuscul Disord"},{"key":"668_CR17","doi-asserted-by":"publisher","first-page":"1570","DOI":"10.1086\/302422","volume":"64","author":"S Mardy","year":"1999","unstructured":"Mardy S, Miura Y, Endo F et al (1999) Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet 64:1570\u20131579","journal-title":"Am J Hum Genet"},{"key":"668_CR18","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1093\/hmg\/10.3.179","volume":"10","author":"S Mardy","year":"2001","unstructured":"Mardy S, Miura Y, Endo F, Matsuda I, Indo Y (2001) Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum Mol Genet 10:179\u2013188","journal-title":"Hum Mol Genet"},{"key":"668_CR19","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1111\/j.1399-0004.2008.01143.x","volume":"75","author":"C Suriu","year":"2009","unstructured":"Suriu C, Khayat M, Weiler M et al (2009) Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. Clin Genet 75:230\u2013236","journal-title":"Clin Genet"},{"issue":"5","key":"668_CR20","doi-asserted-by":"publisher","first-page":"e1381","DOI":"10.1542\/peds.2013-2015","volume":"133","author":"GE van den Bosch","year":"2014","unstructured":"van den Bosch GE, Baartmans MGA, Vos P, Dokter J, White T, Tibboel D (2014) Pain insensitivity syndrome misinterpreted as inflicted burns. Pediatrics 133(5):e1381\u2013e1387","journal-title":"Pediatrics"},{"key":"668_CR21","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1002\/ajmg.a.35803","volume":"161","author":"N Haga","year":"2013","unstructured":"Haga N, Kubota M, Miwa Z (2013) Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. Am J Med Genet A 161:871\u2013874","journal-title":"Am J Med Genet A"},{"key":"668_CR22","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1203\/01.PDR.0000155941.37155.41","volume":"57","author":"N Loewenthal","year":"2005","unstructured":"Loewenthal N, Levy J, Schreiber R, Pinsk V, Perry Z, Shorer Z, Hershkovitz E (2005) Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV. Pediatr Res 57:587\u2013590","journal-title":"Pediatr Res"},{"issue":"3","key":"668_CR23","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1002\/mus.880030305","volume":"1980","author":"E Rafel","year":"1980","unstructured":"Rafel E, Alberca R, Bautista J, Navarrete M, Lazo J (1980) Congenital insensitivity to pain with anhidrosis. Muscle Nerve 1980(3):216\u2013220","journal-title":"Muscle Nerve"},{"key":"668_CR24","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1097\/00005072-198011000-00005","volume":"39","author":"HH Goebel","year":"1980","unstructured":"Goebel HH, Veit S, Dyck PJ (1980) Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol 39:670\u2013675","journal-title":"J Neuropathol Exp Neurol"},{"key":"668_CR25","first-page":"259","volume":"57","author":"EL Lee","year":"1976","unstructured":"Lee EL, Oh GC, Lam KL, Parameswaran N (1976) Congenital sensory neuropathy with anhidrosis: a case report. Pediatrics 57:259\u2013262","journal-title":"Pediatrics"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-021-00668-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-021-00668-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-021-00668-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,8]],"date-time":"2021-09-08T04:07:58Z","timestamp":1631074078000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-021-00668-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,17]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["668"],"URL":"https:\/\/doi.org\/10.1007\/s10048-021-00668-z","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,17]]},"assertion":[{"value":"10 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 August 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 August 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}