{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:26:13Z","timestamp":1791213973355,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,11,22]],"date-time":"2014-11-22T00:00:00Z","timestamp":1416614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,5]]},"abstract":"Spinal neurofibromatosis (SNF<\/jats:styled-content>) is a related form of neurofibromatosis 1 (NF1<\/jats:styled-content>), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical NF1<\/jats:styled-content>. By rigorous application of these criteria to the 98 SNF<\/jats:styled-content> cases published, we developed: (i) a cohort of 49 SNF<\/jats:styled-content> patients (21 males and 28 females; aged 4\u201374\u2009years]: 9 SNF<\/jats:styled-content> families (21\/49), 1 mixed SNF<\/jats:styled-content>\/NF1<\/jats:styled-content> family (1\/49) and 27 of 49 sporadic SNF<\/jats:styled-content> patients (including 5 unpublished patients in this report); and (ii) a group of 49 non\u2010SNF<\/jats:styled-content> patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (MNFSR<\/jats:styled-content>): 4 mixed SNF<\/jats:styled-content>\/MNFSR<\/jats:styled-content> families (6\/32); (b) 14 patients with NF1<\/jats:styled-content> manifestations without spinal neurofibromas, belonging to SNF<\/jats:styled-content> (8\/49) or MNFSR<\/jats:styled-content> families (6\/32); (c) 3 patients with neurofibromas in one spinal root. In addition to reduced incidence of caf\u00e9\u2010au\u2010lait spots (67% in SNF<\/jats:styled-content> vs<\/jats:italic> 56% in MNFSR<\/jats:styled-content>), other NF1<\/jats:styled-content> manifestations were less frequent in either cohort. Molecular testing showed common NF1<\/jats:styled-content><\/jats:italic> gene abnormalities in both groups. The risk of developing SNF<\/jats:styled-content> vs<\/jats:italic> NF1<\/jats:styled-content> was increased for missense mutations [p\u2009=\u20090.0001; odds ratio (OR<\/jats:styled-content>)\u2009=\u20096.16; confidence interval (CI<\/jats:styled-content>)\u2009=\u20093.14\u201313.11], which were more frequent in SNF<\/jats:styled-content> vs<\/jats:italic> MNFSR<\/jats:styled-content> (p\u2009=\u20090.0271).<\/jats:p>","DOI":"10.1111\/cge.12498","type":"journal-article","created":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T13:37:55Z","timestamp":1410442675000},"page":"401-410","source":"Crossref","is-referenced-by-count":77,"title":["The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features"],"prefix":"10.1111","volume":"87","author":[{"given":"M.","family":"Ruggieri","sequence":"first","affiliation":[{"name":"Department of Educational Sciences Chair of Paediatrics Catania Italy"},{"name":"Centre for Neurocutaneous Disorders University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Polizzi","sequence":"additional","affiliation":[{"name":"Institute of Neurological Sciences National Research Council Catania Italy"},{"name":"National Centre for Rare Diseases Istituto Superiore di Sanit\u00e0 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Spalice","sequence":"additional","affiliation":[{"name":"Child Neurology Division, Department of Paediatrics Sapienza University of Rome Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Salpietro","sequence":"additional","affiliation":[{"name":"Unit of Genetics and Pediatric Immunology, Department of Pediatrics University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Caltabiano","sequence":"additional","affiliation":[{"name":"Department \u2018G. 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