{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T21:43:21Z","timestamp":1771969401727,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T00:00:00Z","timestamp":1603238400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe an Italian family with adult\u2010onset pure hereditary spastic paraplegia due to biallelic variants in <jats:italic>POLR3A<\/jats:italic> gene [c.1909\u00a0+\u00a022G\u00a0&gt;\u00a0A and c.3839dupT (p.M1280fs*20]. MRI showed a mild hyperintensity of superior cerebellar peduncles and cervical spinal cord atrophy. The neurophysiological metrics about intracortical excitability showed higher values of motor thresholds and a significant reduction of short interval intracortical inhibition (SICI) in the patient with a more severe phenotype. Our multimodal evaluation further expands the wide phenotypic spectrum associated with mutations in the <jats:italic>POLR3A<\/jats:italic> gene. An extensive genotype\u2013phenotype correlation study is necessary to explain the role of the many new mutations on the function of protein.<\/jats:p>","DOI":"10.1002\/acn3.51221","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T10:15:38Z","timestamp":1603275338000},"page":"2326-2331","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and <i>POLR3A<\/i> mutations"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7756-9567","authenticated-orcid":false,"given":"Lucia","family":"Ruggiero","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences University Federico II of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aniello","family":"Iovino","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences University Federico II of Naples Naples Italy"},{"name":"Department of Advanced Biomedical Sciences University of Naples Federico II Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2487-4741","authenticated-orcid":false,"given":"Raffaele","family":"Dubbioso","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences University Federico II of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirio","family":"Cocozza","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples Federico II Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanna","family":"Trovato","sequence":"additional","affiliation":[{"name":"Molecular Medicine IRCCS Fondazione Stella Maris Calambrone Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Aruta","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences University Federico II of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5425-1890","authenticated-orcid":false,"given":"Giuseppe","family":"Pontillo","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples Federico II Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Barghigiani","sequence":"additional","affiliation":[{"name":"Molecular Medicine IRCCS Fondazione Stella Maris Calambrone Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arturo","family":"Brunetti","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples Federico II Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine IRCCS Fondazione Stella Maris Calambrone Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9478-3744","authenticated-orcid":false,"given":"Fiore","family":"Manganelli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences University Federico II of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Iodice","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences University Federico II of Naples Naples Italy"},{"name":"IRCCS SDN (Istituto di Ricovero e Cura a Carattere Scientifico) Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.003"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.014"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61600"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx095"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz041"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1007\/s00415-019-09574-9","article-title":"J POLR3A\u2010related spastic ataxia: new mutations and a look into the phenotype","volume":"267","author":"Infante J","year":"2020","journal-title":"J Neurol"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-019-00602-4"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00967"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-019-04147-0"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2010.10.025"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.04.026"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25712"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51024"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14094"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000228242.53336.90"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.4899"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51221","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.51221","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T05:10:19Z","timestamp":1693717819000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.51221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,21]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/acn3.51221"],"URL":"https:\/\/doi.org\/10.1002\/acn3.51221","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,21]]},"assertion":[{"value":"2020-07-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}