{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T09:12:17Z","timestamp":1718269937372},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,11,4]],"date-time":"2013-11-04T00:00:00Z","timestamp":1383523200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Telethon Italy","award":["GPP10121A"],"award-info":[{"award-number":["GPP10121A"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>The hereditary spastic paraplegias (<jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>) are characterized by progressive spasticity of the lower limbs, mostly inherited as an autosomal dominant trait. Analyses of large <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content> pedigrees could help to better characterize the phenotype due to a single causative mutation. Patients in a seven\u2010generation kindred carrying a large deletion in <jats:italic><jats:styled-content style=\"fixed-case\">SPAST<\/jats:styled-content><\/jats:italic>\/<jats:styled-content style=\"fixed-case\">SPG<\/jats:styled-content>4 are described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Individuals originating from Sardinia were clinically and genetically studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixty\u2010seven subjects carried a heterozygous deletion encompassing exons 2\u201317 of <jats:italic><jats:styled-content style=\"fixed-case\">SPAST<\/jats:styled-content><\/jats:italic>. Fifty patients (53.2\u00a0\u00b1\u00a015.4\u00a0years) presented a pure form of spastic paraparesis characterized by mild impairment and slow progression. Most patients showed spasticity, increased tendon reflexes in the lower limbs and Babinski sign, whilst weakness was rarely detected and urinary disturbances occasionally reported. Amongst the 17 asymptomatic carriers of the mutation, minimal neurological signs were detected in 11 cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A focus on spasticity, increased tendon reflexes and Babinski sign, more than on weakness, could help clinicians to promote early diagnosis in asymptomatic carriers of <jats:italic><jats:styled-content style=\"fixed-case\">SPAST<\/jats:styled-content><\/jats:italic> deletions.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12290","type":"journal-article","created":{"date-parts":[[2013,11,4]],"date-time":"2013-11-04T10:54:41Z","timestamp":1383562481000},"page":"935-938","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Large deletion mutation of <i><scp>SPAST<\/scp><\/i> in a multi\u2010generation family from <scp>S<\/scp>ardinia"],"prefix":"10.1111","volume":"21","author":[{"given":"L.","family":"Racis","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Sassari Sassari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Di Fabio","sequence":"additional","affiliation":[{"name":"Department of Medical\u2010Surgical Sciences and Biotechnologies \u2018Sapienza\u2019 University of Rome Latina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Tessa","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Guillot","sequence":"additional","affiliation":[{"name":"ASL Sassari Sassari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Storti","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Piccolo","sequence":"additional","affiliation":[{"name":"Department of Medical\u2010Surgical Sciences and Biotechnologies \u2018Sapienza\u2019 University of Rome Latina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Nesti","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Tedde","sequence":"additional","affiliation":[{"name":"ASL Sassari Sassari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Pierelli","sequence":"additional","affiliation":[{"name":"IRCCS Neuromed Pozzilli (IS) Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Agnetti","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Sassari Sassari Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. M.","family":"Santorelli","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Casali","sequence":"additional","affiliation":[{"name":"Department of Medical\u2010Surgical Sciences and Biotechnologies \u2018Sapienza\u2019 University of Rome Latina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.03.025"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1956"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0895-4356(89)90065-6"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000311395.31081.70"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1299787"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20077"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046425"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2011.03.043"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.22337"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.291898"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-5-32"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.12290","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.12290","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T10:50:55Z","timestamp":1695552655000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.12290"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,4]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1111\/ene.12290"],"URL":"https:\/\/doi.org\/10.1111\/ene.12290","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,4]]},"assertion":[{"value":"2013-06-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-09-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-11-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}