{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T21:38:54Z","timestamp":1755034734040,"version":"3.41.2"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T00:00:00Z","timestamp":1581638400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010585","name":"Osasun Saila, Eusko Jaurlaritzako","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010585","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"DOI":"10.3389\/fneur.2020.00041","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T06:15:26Z","timestamp":1581660926000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis"],"prefix":"10.3389","volume":"11","author":[{"given":"Sergio","family":"Aguilera-Albesa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Bel\u00e9n","family":"de la Hoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nekane","family":"Ibarluzea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s R.","family":"Ord\u00f3\u00f1ez-Castillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivia","family":"Busto-Crespo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olatz","family":"Villate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Asunci\u00f3n","family":"Ibiricu-Yanguas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda E.","family":"Yoldi-Petri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I\u00f1aki","family":"Garc\u00eda de Gurtubay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiomar","family":"Perez de Nanclares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arrate","family":"Pereda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Isabel","family":"Tejada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,2,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1055\/s-0031-1299787","article-title":"Genetics of hereditary spastic paraplegias","volume":"31","author":"Schule","year":"2011","journal-title":"Semin Neurol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1016\/s0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1016\/S1474-4422(08)70258-8","article-title":"Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms","volume":"7","author":"Salinas","year":"2008","journal-title":"Lancet Neurol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1002\/ana.24611","article-title":"Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients","volume":"79","author":"Schule","year":"2016","journal-title":"Ann Neurol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1904","DOI":"10.1093\/brain\/aww111","article-title":"Genetic and phenotypic characterization of complex hereditary spastic paraplegia","volume":"139","author":"Kara","year":"2016","journal-title":"Brain."},{"key":"B7","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/j.neurol.2017.03.034","article-title":"Hereditary spastic paraplegia: more than an upper motor neuron disease","volume":"173","author":"Parodi","year":"2017","journal-title":"Rev Neurol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1097\/GIM.0b013e31822c79f9","article-title":"An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities","volume":"13","author":"Kaminsky","year":"2011","journal-title":"Genet Med."},{"key":"B9","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1136\/jmg.2008.061580","article-title":"Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number","volume":"46","author":"Hogart","year":"2009","journal-title":"J Med Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1933","DOI":"10.1002\/ajmg.a.33521","article-title":"Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication","author":"Piard","year":"2010","journal-title":"Am J Med Genet A"},{"key":"B11","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/s00439-002-0678-6","article-title":"Characterisation of interstitial duplications and triplications of chromosome 15q11-q13","volume":"110","author":"Roberts","year":"2002","journal-title":"Hum Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med."},{"key":"B13","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","volume":"376","author":"Posey","year":"2017","journal-title":"N Engl J Med."},{"key":"B14","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.nbd.2010.03.011","article-title":"Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13","volume":"39","author":"Chamberlain","year":"2010","journal-title":"Neurobiol Dis."},{"key":"B15","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1002\/humu.22800","article-title":"15q11.2 duplication encompassing only the UBE3A gene is associated with developmental delay and neuropsychiatric phenotypes","volume":"36","author":"Noor","year":"2015","journal-title":"Hum Mutat"},{"key":"B16","doi-asserted-by":"publisher","first-page":"3995","DOI":"10.1093\/hmg\/ddx289","article-title":"Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome","volume":"26","author":"Copping","year":"2017","journal-title":"Hum Mol Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1038\/ng0997-75","article-title":"Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons","volume":"17","author":"Albrecht","year":"1997","journal-title":"Nat Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1007\/s00439-008-0546-0","article-title":"Gender influences monoallelic expression of ATP10A in human brain","volume":"124","author":"Hogart","year":"2008","journal-title":"Hum Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1501","DOI":"10.1086\/320616","article-title":"The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression","volume":"68","author":"Herzing","year":"2001","journal-title":"Am J Hum Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1093\/brain\/awn026","article-title":"REEP1 mutation spectrum and genotype\/phenotype correlation in hereditary spastic paraplegia type 31","volume":"131","author":"Beetz","year":"2008","journal-title":"Brain."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2020.00041\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T06:15:28Z","timestamp":1581660928000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2020.00041\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,14]]},"references-count":20,"alternative-id":["10.3389\/fneur.2020.00041"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2020.00041","relation":{},"ISSN":["1664-2295"],"issn-type":[{"type":"electronic","value":"1664-2295"}],"subject":[],"published":{"date-parts":[[2020,2,14]]},"article-number":"41"}}