{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:25:07Z","timestamp":1790115907272,"version":"4.0.1"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T00:00:00Z","timestamp":1695081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006400","name":"Alnylam Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006400","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and purpose<\/jats:title>\n                    <jats:p>\n                      Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv\u2010PN) is caused by mutations in the\n                      <jats:italic>TTR<\/jats:italic>\n                      gene, leading to misfolded monomers that aggregate generating amyloid fibrils.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A prospective systematic genetic screening for ATTRv\u2010PN was proposed in patients presenting with a sensory\u2013motor idiopathic polyneuropathy and two or more \u201cred flags\u201d among the following: family history of polyneuropathy or cardiopathy, bilateral carpal tunnel syndrome, cardiac insufficiency, renal amyloidosis, lumbar tract stenosis, autonomic dysfunction, idiopathic gastrointestinal disease, amyloid deposits on biopsy, and vitreous opacities. The detection rate was calculated, and nonparametric analyses were carried out to underline differences among screened positive versus negative patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In the first step, 145 suspected patients underwent genetic testing, revealing a diagnosis of ATTRv\u2010PN in 14 patients (10%). Then, cascade screening allowed early recognition of 33 additional individuals (seven symptomatic ATTRv\u2010PN patients and 26 presymptomatic carriers) among 84 first\u2010degree relatives. Patients with a positive genetic test presented a higher frequency of unexplained weight loss, gastrointestinal symptoms, and family history of cardiopathy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>A systematic screening for ATTRv\u2010PN yielded an increased recognition of the disease in our neurological clinic. Unexplained weight loss associated with axonal polyneuropathy had the highest predictive value in the guidance of clinical suspicion. A focused approach for the screening of ATTRv\u2010PN could lead to an earlier diagnosis and identification of asymptomatic carriers, who will be promptly treated after a strict follow\u2010up at the clinical onset.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.16065","type":"journal-article","created":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T10:20:22Z","timestamp":1695118822000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9805-1655","authenticated-orcid":false,"given":"Vincenzo","family":"Di\u00a0Stefano","sequence":"first","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Lupica","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Alonge","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Pignolo","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia Maria","family":"Augello","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Gentile","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Gagliardo","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Giglia","sequence":"additional","affiliation":[{"name":"Unit of Neurology With Stroke Unit S. Giovanni di Dio Hospital  Agrigento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Brinch","sequence":"additional","affiliation":[{"name":"Section of Gastroenterology and Hepatology, Department of Health Promotion, Mother and Child Care, Internal Medicine, and Medical Specialties University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cappello","sequence":"additional","affiliation":[{"name":"Section of Gastroenterology and Hepatology, Department of Health Promotion, Mother and Child Care, Internal Medicine, and Medical Specialties University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Di\u00a0Lisi","sequence":"additional","affiliation":[{"name":"Section of Cardiology, Department of Health Promotion, Mother and Child Care Internal Medicine, and Medical Specialties, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Novo","sequence":"additional","affiliation":[{"name":"Section of Cardiology, Department of Health Promotion, Mother and Child Care Internal Medicine, and Medical Specialties, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia","family":"Borgione","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular Diseases Oasi Research Institute, IRCCS  Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Scuderi","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular Diseases Oasi Research Institute, IRCCS  Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Brighina","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine Neuroscience, and Advanced Diagnostics, University of Palermo  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,19]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09688-0"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301299"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1000-1"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26034"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0726-x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci10120952"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10741-021-10080-2"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ehf2.12511"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci10110780"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12875-020-01252-4"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12153"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01633-z"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/13506129.2020.1794807"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-150091"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10286-019-00624-w"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/TP.0000000000001021"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51328"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0337-1"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)91802-0"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02979.x"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04030.x"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03131.x"},{"issue":"5","key":"e_1_2_12_24_1","article-title":"Molecular analyses of an acidic transthyretin Asn 90 variant","volume":"48","author":"Saraiva MJM","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-315262"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-61"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.3109\/13506129909007313"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1080\/13506129.2020.1773425"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci13050805"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.12.1364"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/jgh.13996"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.282.2.153"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-211-47423-5_7"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmg.2019.10.015"},{"key":"e_1_2_12_35_1","article-title":"Hereditary transthyretin amyloidosis overview","author":"Manganelli F","year":"2020","journal-title":"Neurol Sci"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12060829"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.16065","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T06:17:55Z","timestamp":1710915475000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.16065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,19]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1111\/ene.16065"],"URL":"https:\/\/doi.org\/10.1111\/ene.16065","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,19]]},"assertion":[{"value":"2023-06-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e16065"}}