{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T05:05:11Z","timestamp":1754111111903,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,6,11]],"date-time":"2020-06-11T00:00:00Z","timestamp":1591833600000},"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":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary sensory and autonomic neuropathies (HSAN) encompass a group of peripheral nervous system disorders characterized by remarkable heterogeneity from a clinical and genetic point of view. Mutations in <jats:italic>SPTLC1<\/jats:italic> gene are responsible for HSAN type IA, which usually starts from the second to fourth decade with axonal neuropathy, sensory loss, painless distal ulcerations, and mild autonomic features, while motor involvement usually occur later as disease progresses. Beyond the classic presentation of HSAN type IA, an exceedingly rare distinct phenotype related to <jats:italic>SPTLC1<\/jats:italic> mutations at residue serine 331 (S331) has recently been reported, characterized by earlier onset, prominent muscular atrophy, growth retardation, oculo\u2010skeletal abnormalities, and possible respiratory complications. In this report, we describe clinical, instrumental, and genetic aspects of a 13\u2010year\u2010old Sri Lankan male carrying the rare de novo p.S331Y heterozygous mutation in <jats:italic>SPTLC1<\/jats:italic> gene found by whole exome sequencing. Patient's phenotype partly overlaps with the first case previously reported, however with some additional features not described before. This work represent the second report about this rare mutation and our findings strongly reinforce the hypothesis of a clearly distinct \u201cS331 syndrome\u201d, thus expanding the spectrum of <jats:italic>SPTLC1<\/jats:italic>\u2010related disorders.<\/jats:p>","DOI":"10.1111\/jns.12394","type":"journal-article","created":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T16:47:53Z","timestamp":1590770873000},"page":"308-311","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expanding the spectrum of <scp><i>SPTLC1<\/i><\/scp>\u2010related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct \u201c<scp>S331<\/scp> syndrome\u201d"],"prefix":"10.1111","volume":"25","author":[{"given":"Fabiana","family":"Rossi","sequence":"first","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, Second Division of Neurology University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9388-9336","authenticated-orcid":false,"given":"Giorgia","family":"Bruno","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, Second Division of Neurology University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Fratta","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, Second Division of Neurology University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Colavito","sequence":"additional","affiliation":[{"name":"Research &amp; Innovation srl (R&amp;I Genetics)  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Casertano","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, Second Division of Neurology University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Sampaolo","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, Second Division of Neurology University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariano","family":"Oliva","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, Second Division of Neurology University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianfranco","family":"Puoti","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, Second Division of Neurology University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,11]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_6_2_1","DOI":"10.1093\/brain\/awp198"},{"doi-asserted-by":"publisher","key":"e_1_2_6_3_1","DOI":"10.1016\/j.ejmg.2013.02.002"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_1","DOI":"10.1093\/hmg\/ddv611"},{"doi-asserted-by":"publisher","key":"e_1_2_6_5_1","DOI":"10.3892\/mmr.2013.1808"},{"doi-asserted-by":"publisher","key":"e_1_2_6_6_1","DOI":"10.1212\/WNL.0000000000006811"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12394","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.12394","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T20:45:10Z","timestamp":1693946710000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,11]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1111\/jns.12394"],"URL":"https:\/\/doi.org\/10.1111\/jns.12394","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"type":"print","value":"1085-9489"},{"type":"electronic","value":"1529-8027"}],"subject":[],"published":{"date-parts":[[2020,6,11]]},"assertion":[{"value":"2020-05-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}