{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:35:05Z","timestamp":1790501705511,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T00:00:00Z","timestamp":1575504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dominant mutations in\n                    <jats:italic>ATP1A1<\/jats:italic>\n                    , encoding the alpha\u20101 isoform of the Na\n                    <jats:sup>+<\/jats:sup>\n                    \/K\n                    <jats:sup>+<\/jats:sup>\n                    \u2010ATPase, have been recently reported to cause an axonal to intermediate type of Charcot\u2010Marie\u2010Tooth disease (ie, CMT2DD) and a syndrome with hypomagnesemia, intractable seizures and severe intellectual disability. Here, we describe the first case of hereditary spastic paraplegia (HSP) caused by a novel de novo (p.L337P) variant in\n                    <jats:italic>ATP1A1<\/jats:italic>\n                    . We provide evidence for the causative role of this variant with functional and homology modeling studies. This finding expands the phenotypic spectrum of the\n                    <jats:italic>ATP1A1<\/jats:italic>\n                    \u2010related disorders, adds a piece to the larger genetic puzzle of HSP, and increases knowledge on the molecular mechanisms underlying inherited axonopathies (ie, CMT and HSP).\n                  <\/jats:p>","DOI":"10.1111\/cge.13668","type":"journal-article","created":{"date-parts":[[2019,11,9]],"date-time":"2019-11-09T00:29:50Z","timestamp":1573259390000},"page":"521-526","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Hereditary spastic paraplegia is a novel phenotype for germline de novo\n                    <i>ATP1A1<\/i>\n                    mutation"],"prefix":"10.1111","volume":"97","author":[{"given":"Fabrizia","family":"Stregapede","sequence":"first","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"},{"name":"Department of Sciences University of Roma Tre  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0142-6516","authenticated-orcid":false,"given":"Lorena","family":"Travaglini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana P.","family":"Rebelo","sequence":"additional","affiliation":[{"name":"John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian Pedigone","family":"Cintra","sequence":"additional","affiliation":[{"name":"Ribeir\u00e3o Preto School of Medicine University of S\u00e3o Paulo  Ribeir\u00e3o Preto S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Bosco","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Alfieri","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Pro","sequence":"additional","affiliation":[{"name":"Unit of Neurophysiology, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5612-821X","authenticated-orcid":false,"given":"Francesco","family":"Nicita","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences IRCCS Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000303"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.023"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.004"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2550"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-018-0545-9"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy096"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/prot.22488"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22836"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12578"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-37119-z"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24611"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00981"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2716"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.09.015"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2016.05.029"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-018-0920-y"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2016.00239"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww307"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000700"}],"container-title":["Clinical 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