{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:19:48Z","timestamp":1791825588369,"version":"4.3.4"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,4,5]],"date-time":"2016-04-05T00:00:00Z","timestamp":1459814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The early\u2010onset classic form of panthotenate kinase\u2010associated neurodegeneration (<jats:styled-content style=\"fixed-case\">PKAN<\/jats:styled-content>) is a rare genetic disorder of brain iron deposition associated with mutations in the pantothenate kinase 2 gene. Genetic testing was performed in 17 patients with early\u2010onset classic <jats:styled-content style=\"fixed-case\">PKAN<\/jats:styled-content> and 2 atypical patients identified from a clinic database. Seventeen patients with early\u2010onset classic disease exhibited pathogenic mutations in the panthotenate kinase 2 (<jats:styled-content style=\"fixed-case\">PANK<\/jats:styled-content>2) gene. One atypical patient had an indeterminate result and the other atypical case was later confirmed to have late\u2010onset <jats:styled-content style=\"fixed-case\">GM<\/jats:styled-content>1 gangliosidosis. Of the 17, 13 belonged to the Agrawal community, with a common truncating mutation, c.215_216insA, in the homozygous state in all, which is highly suggestive of a founder effect. Of the remaining 4 patients, 2 had novel mutations. <jats:styled-content style=\"fixed-case\">PKAN<\/jats:styled-content> is the third neurological disease after megelencephalic leukoencephalopathy with subcortical cysts and calpainopathy with founder mutations in the Agrawal community.<\/jats:p>","DOI":"10.1002\/mdc3.12341","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T08:22:29Z","timestamp":1460276549000},"page":"96-99","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Panthotenate Kinase\u2010Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients"],"prefix":"10.1002","volume":"4","author":[{"given":"Vrajesh","family":"Udani","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Neurology P.D. Hinduja National Hospital &amp; Medical Research Centre Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soma","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Chicago Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Chhabria","sequence":"additional","affiliation":[{"name":"Department of Cardiology Jaslok Hospital &amp; Medical Research Center Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.03955.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061929"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020817"},{"key":"e_1_2_8_5_1","first-page":"1230","article-title":"Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations","volume":"27","author":"Hayflick S","year":"2006","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng572"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-005-0018-9"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.22884"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12197"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.11.1673"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23095"},{"key":"e_1_2_8_12_1","unstructured":"Agrawal: Wikipedia the free encyclopedia [Internet].Wikimedia Foundation Inc. [updated 2014 Dec 28 cited 2015 Jan 28] Available at: en.wikipedia.org\/wiki\/Agrawal. Accessed 28 January 2015."},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000115106.88813.5B"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23763"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12341","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12341","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12341","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T08:57:52Z","timestamp":1760950672000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,5]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1002\/mdc3.12341"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12341","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,5]]},"assertion":[{"value":"2015-06-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-01-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-04-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}