{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T15:26:58Z","timestamp":1792682818021,"version":"4.5.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T00:00:00Z","timestamp":1682640000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kinase 2 (<jats:italic>PANK2<\/jats:italic>) gene. Herein, we report a 4-year-old patient with PKAN from a Han Chinese family, who presented with developmental regression, progressive inability to walk, and limb tremors. Neuroimaging demonstrated \u201ceye-of-the-tiger\u201d sign. Whole exome sequencing (WES) identified compound heterozygous mutations of c.1213T&amp;gt;G (p.Tyr405Asp) and c.1502T&amp;gt;A (p.Ile501Asn) in <jats:italic>PANK2<\/jats:italic> gene. In addition, a review of all known <jats:italic>PANK2<\/jats:italic> variants observed in reported PKAN patients was conducted, to improve understanding of the genotype-phenotype associations that occur in PKAN patients.<\/jats:p>","DOI":"10.3389\/fneur.2023.1170557","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T05:53:12Z","timestamp":1682661192000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review"],"prefix":"10.3389","volume":"14","author":[{"given":"Yilun","family":"Tao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiju","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenxia","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoze","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,4,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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":"B2","doi-asserted-by":"publisher","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":"B3","doi-asserted-by":"publisher","first-page":"1810","DOI":"10.1212\/01.WNL.0000161843.52641.EC","article-title":"The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration","volume":"64","author":"Pellecchia","year":"2005","journal-title":"Neurology."},{"key":"B4","doi-asserted-by":"publisher","first-page":"224","DOI":"10.3109\/00207454.2010.542843","article-title":"Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome","volume":"121","author":"Mak","year":"2011","journal-title":"Int J Neurosci."},{"key":"B5","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1016\/j.ymgme.2019.09.002","article-title":"Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans","volume":"128","author":"Brezavar","year":"2019","journal-title":"Mol Genet Metab."},{"key":"B6","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1007\/BF02878455","article-title":"Eigenartige erkrankung im extrapyramidalen system mit besonderer beteiligung des globus pallidus und der substantia nigra","volume":"79","author":"Hallervorden","year":"1922","journal-title":"Zeitschrift Gesamte Neurol Psychiatr."},{"key":"B7","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/ng572","article-title":"A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome","volume":"28","author":"Zhou","year":"2001","journal-title":"Nat Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"e49509","DOI":"10.1371\/journal.pone.0049509","article-title":"Compartmentalization of mammalian pantothenate kinases","volume":"7","author":"Alfonso-Pecchio","year":"2012","journal-title":"PLoS ONE."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.22037\/ijcn.v8i4.7574","article-title":"Neurodegeneration with brain iron accumulation: an overview","volume":"8","author":"Tonekaboni","year":"2014","journal-title":"Iran J child Neurol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1016\/j.ymgme.2013.06.017","article-title":"Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration","volume":"110","author":"Williams","year":"2013","journal-title":"Mol Genet Metab."},{"key":"B11","doi-asserted-by":"publisher","first-page":"4834","DOI":"10.1038\/s41598-017-05388-9","article-title":"A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - 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