{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:25:45Z","timestamp":1761863145734},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,12,21]],"date-time":"2012-12-21T00:00:00Z","timestamp":1356048000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transthyretin\u2010related familial amyloidotic polyneuropathy (<jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content>) usually presents itself as a progressive sensorimotor polyneuropathy with severe autonomic dysfunction and cardiomyopathy. Eighteen patients carrying the Leu64 mutation underwent a series of regular follow\u2010ups, including: neurological examination, electroneurography, electromyography, electrocardiography and echocardiography, blood analysis, a questionnaire on autonomic symptoms, cardiovascular autonomic tests and a <jats:styled-content style=\"fixed-case\">99mTc\u2010DPD<\/jats:styled-content> examination study. A late onset of a slowly progressive disease which reached its terminal stage after about 10\u2009\u2009years was observed. The onset was mainly a length\u2010dependent sensory neuropathy, although a focal onset with carpal tunnel syndrome was detected in three patients. At the onset of the disease, autonomic dysfunction was present in a small number of patients, but, within a few years, this had manifested in all members of the sample group. The only extra\u2010neurological manifestations were cardiac related. It is reasonable to consider Southern Italy as an endemic focus of <jats:styled-content style=\"fixed-case\">TTR\u2010FAP<\/jats:styled-content>. An underestimation of disease prevalence could be caused by a late onset of <jats:styled-content style=\"fixed-case\">FAP<\/jats:styled-content>, which can manifest in patients up to their late 70s. Follow\u2010up of asymptomatic individuals may permit the early detection of symptoms and signs, allowing a detailed record of the natural history of the disease from the beginning and facilitating prompt treatment.<\/jats:p>","DOI":"10.1111\/j.1529-8027.2012.00436.x","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T05:33:56Z","timestamp":1356154436000},"page":"385-390","source":"Crossref","is-referenced-by-count":40,"title":["Transthyretin\u2010related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset"],"prefix":"10.1111","volume":"17","author":[{"given":"Massimo","family":"Russo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Mazzeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Stancanelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Di Leo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Di Bella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Minutoli","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences, Nuclear Medicine Unit University of Messina  Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Baldari","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences, Nuclear Medicine Unit University of Messina  Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Vita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,12,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150170109"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/13506129.2012.685665"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.7.1057"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.86.694"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20821"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2011.00331.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-007-0536-5"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb04317.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.09.017"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.6.893"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000269664.84557.fd"},{"key":"e_1_2_5_13_1","first-page":"326","volume-title":"Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice","author":"Kimura J","year":"2001"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/13506129.2012.674580"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2012.711400"},{"key":"e_1_2_5_16_1","doi-asserted-by":"crossref","unstructured":"LuigettiM ConteA Del GrandeA BisogniG MadiaF Lo MonacoM LaurentiL ObiciL MerliniG SabatelliM(2012).TTR\u2010related amyloid neuropathy: clinical electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci May 17 Epub ahead of print.","DOI":"10.1007\/s10072-012-1105-y"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000183828"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210602"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.10.1951"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.05.073"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70246-0"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.3.708"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000267338.45673.f4"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00259-001-0730-0"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.1.45"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.3109\/13506129.2012.682187"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0894-7317(89)80014-8"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.3109\/13506129708995279"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(86)90074-2"},{"key":"e_1_2_5_30_1","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF00319735","article-title":"Multivariate analysis of cardiovascular reflexes applied to the diagnosis of autonomic neuropathy","volume":"238","author":"Vita G","year":"1991","journal-title":"J Neurol"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.015"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.3109\/13506129.2012.665400"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1529-8027.2012.00436.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1529-8027.2012.00436.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T08:44:22Z","timestamp":1700556262000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1529-8027.2012.00436.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1111\/j.1529-8027.2012.00436.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1529-8027.2012.00436.x","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12]]}}}