{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T22:36:23Z","timestamp":1775514983522,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,26]],"date-time":"2014-09-26T00:00:00Z","timestamp":1411689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, <jats:italic>WDR45<\/jats:italic> mutations were reported in patients with \u03b2\u2010propeller protein\u2010associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. BPAN has a distinct brain magnetic resonance imaging (MRI) pattern showing iron deposition in the globus pallidus and substantia nigra. To date, many of the BPAN patients have been diagnosed in adulthood. Here, we report on 6\u2010year\u2010old girl with BPAN diagnosed by whole exome sequencing. She showed Rett syndrome\u2010like manifestations, a peculiar facial appearance and mildly elevated serum enzymes. Brain iron accumulation was detected by T2*\u2010weighted MRI and T2\u2010star weighted angiography (SWAN). This unique combination of clinical and neuroimaging features may be helpful for early diagnosis of BPAN. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36779","type":"journal-article","created":{"date-parts":[[2014,9,26]],"date-time":"2014-09-26T19:22:00Z","timestamp":1411759320000},"page":"3095-3099","source":"Crossref","is-referenced-by-count":30,"title":["Early manifestations of BPAN in a pediatric patient"],"prefix":"10.1002","volume":"164","author":[{"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae","family":"Ikeda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuji","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Maizuru Medical Center Maizuru Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuto","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumi","family":"Kawato","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Komoto","sequence":"additional","affiliation":[{"name":"Student Lab The University of Tokushima Faculty of Medicine Tokushima Japan"},{"name":"Department of Human Genetics Institute of Health Biosciences The University of Tokushima Graduate School Tokushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Issei","family":"Imoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Institute of Health Biosciences The University of Tokushima Graduate School Tokushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.2.293"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.019"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt095"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050909"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.18"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2562"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.11.010"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.11.019"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36779","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:29:05Z","timestamp":1696595345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,26]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1002\/ajmg.a.36779"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36779","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,26]]}}}