{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:49:23Z","timestamp":1790153363916,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T00:00:00Z","timestamp":1577318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18kk0205001h003"],"award-info":[{"award-number":["JP18kk0205001h003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Alterations of vacuolar protein sorting\u2010associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, <jats:italic>VPS13D<\/jats:italic> mutations were identified as a cause of <jats:italic>VPS13D<\/jats:italic>\u2010related movement disorders, which show several phenotypes including chorea, dystonia, spastic ataxia, and spastic paraplegia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We applied whole\u2010exome analysis for a patient with a complicated form of hereditary spastic paraplegia (HSP) and her unaffected parents. Then, we screened the candidate genes in 664 Japanese families with HSP in Japan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We first found a compound heterozygote <jats:italic>VPS13D<\/jats:italic> mutation and a heterozygote <jats:italic>ABHD4<\/jats:italic> variation in a sporadic patient with spastic paraplegia. Then, we found three patients with <jats:italic>VPS13D<\/jats:italic> mutations in two Japanese HSP families. The three patients with homozygous mutations (p.Thr1118Met\/p.Thr1118Met and p.Thr2945Ala\/p.Thr2945Ala) in the <jats:italic>VPS13D<\/jats:italic> showed an adult onset pure form of HSP. Meanwhile, the patient with a compound heterozygous mutation (p.Ser405Arg\/p.Arg3141Ter) in the <jats:italic>VPS13D<\/jats:italic> showed a childhood onset complicated form of HSP associated with cerebellar ataxia, cervical dystonia, cataracts, and chorioretinal dystrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In the present study, we found four patients in three Japanese families with novel <jats:italic>VPS13D<\/jats:italic> mutations, which may broaden the clinical and genetic findings for <jats:italic>VPS13D<\/jats:italic>\u2010related disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1108","type":"journal-article","created":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T10:04:36Z","timestamp":1577354676000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["<i>VPS13D<\/i>\u2010related disorders presenting as a pure and complicated form of hereditary spastic paraplegia"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8519-7874","authenticated-orcid":false,"given":"Kishin","family":"Koh","sequence":"first","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0628-7164","authenticated-orcid":false,"given":"Haruo","family":"Shimazaki","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Internal Medicine Jichi Medical University School of Medicine Tochigi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Tsutsumiuchi","sequence":"additional","affiliation":[{"name":"Department of Neurology Jichi Medical University Saitama Medical Center Omiya Japan"},{"name":"Department of Neurology Toranomon Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuta","family":"Ichinose","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitian","family":"Nan","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Hamada","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihisa","family":"Ohtsuka","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Department of Molecular Neurology Graduate School of Medicine University of Tokyo Tokyo Japan"},{"name":"Department of Neurology International University of Health and Welfare Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5400-7107","authenticated-orcid":false,"given":"Yoshihisa","family":"Takiyama","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25204"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.12"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ncn3.72"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/375454"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.01.014"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/88821"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25220"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/88825"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2004.04.012"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1108","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T10:55:54Z","timestamp":1708512954000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,26]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1002\/mgg3.1108"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1108","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,26]]},"assertion":[{"value":"2019-07-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1108"}}