{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:22:24Z","timestamp":1787775744327,"version":"build-2784847793"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. The typical \u201ceye-of-the-tiger\u201d sign is the characteristic manifestation of brain magnetic resonance imaging (MRI). We report a Chinese patient with atypical PKAN whose brain MRI scans displayed the typical \u201ceye-of-the-tiger\u201d sign in bilateral pallidum. Genetic analysis identified a compound heterozygous mutation (c. 629-2A &gt; T, c. 1130T &gt; C) for the PANK2 gene. These two mutations were further demonstrated in his parents and other relatives.<\/jats:p>","DOI":"10.4103\/0028-3886.344682","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T04:05:56Z","timestamp":1692849956000},"page":"737-739","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family"],"prefix":"10.4103","volume":"70","author":[{"given":"Jing","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canling","family":"Zhanga","sequence":"additional","affiliation":[{"name":"Nursing Department, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Qiao","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aihua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanchao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,5,3]]},"reference":[{"key":"R1-20260803","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/j.ejmg.2013.08.007","article-title":"A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration","volume":"56","author":"Perez-Gonzalez","year":"2013","journal-title":"Eur J Med Genet"},{"key":"R2-20260803","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1056\/NEJMoa020817","article-title":"Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome","volume":"348","author":"Hayflick","year":"2003","journal-title":"N Engl J Med"},{"key":"R3-20260803","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.2008.061929","article-title":"Clinical and genetic delineation of neurodegeneration with brain iron accumulation","volume":"46","author":"Gregory","year":"2009","journal-title":"J Med Genet"},{"key":"R4-20260803","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1002\/jmri.22884","article-title":"Missense PANK2 mutation without \u201ceye of the tiger\u201d sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN)","volume":"35","author":"Delgado","year":"2012","journal-title":"J Magn Reson Imaging"},{"key":"R5-20260803","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1002\/mds.20408","article-title":"Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration","volume":"20","author":"Zhang","year":"2005","journal-title":"Mov Disord"},{"key":"R6-20260803","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.clineuro.2017.01.011","article-title":"Clinical and genetic features of PKAN patients in a tertiary centre in Turkey","volume":"154","author":"Akcakaya","year":"2017","journal-title":"Clin Neurol Neurosurg"},{"key":"R7-20260803","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.jns.2014.03.001","article-title":"Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family","volume":"340","author":"Tanteles","year":"2014","journal-title":"J Neurol Sci"},{"key":"R8-20260803","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ana.20771","article-title":"Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation","volume":"59","author":"Hartig","year":"2006","journal-title":"Ann Neurol"},{"key":"R9-20260803","doi-asserted-by":"crossref","first-page":"e14122","DOI":"10.1097\/MD.0000000000014122","article-title":"Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration. A case report and review of Chinese cases","volume":"98","author":"Zhang","year":"2019","journal-title":"Medicine (Baltimore)"},{"key":"R10-20260803","doi-asserted-by":"crossref","first-page":"267","DOI":"10.4103\/aian.AIAN_481_18","article-title":"Neurodegeneration with brain iron accumulation","volume":"22","author":"Batla","year":"2019","journal-title":"Ann Indian Acad Neurol"},{"key":"R11-20260803","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.bbalip.2016.02.022","article-title":"Peroxidase activation of cytoglobin by anionic phospholipids: Mechanisms and consequences","volume":"1861","author":"Tejero","year":"2016","journal-title":"Biochim Biophys Acta"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.344682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:41:12Z","timestamp":1787773272000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.344682"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.344682","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"2019-12-03","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-29","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}