{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T12:03:49Z","timestamp":1791374629537,"version":"4.3.1"},"reference-count":40,"publisher":"Ubiquity Press, Ltd.","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,11]]},"DOI":"10.5334\/tohm.583","type":"journal-article","created":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T12:44:01Z","timestamp":1610369041000},"source":"Crossref","is-referenced-by-count":42,"title":["\u201cNeuroacanthocytosis\u201d \u2013 Overdue for a Taxonomic Update"],"prefix":"10.5334","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8366-072X","authenticated-orcid":false,"given":"Ruth H.","family":"Walker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8857-5383","authenticated-orcid":false,"given":"Adrian","family":"Danek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3285","reference":[{"issue":"6","key":"key20210111065403_B1","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1111\/j.1365-2141.1972.tb03488.x","article-title":"The haematology of anorexia nervosa","volume":"23","year":"1972","journal-title":"Br J Haematol"},{"issue":"229\u2013230","key":"key20210111065403_B2","first-page":"171","article-title":"Neuroacanthocytosis: new developments in a neglected group of dementing disorders","year":"2005","journal-title":"J Neurol Sci"},{"key":"key20210111065403_B3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/1-4020-2898-9_1","volume-title":"Neuroacanthocytosis Syndromes","year":"2004"},{"issue":"5","key":"key20210111065403_B4","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1001\/archneur.1982.00510170040011","article-title":"Movement disorders of familial neuroacanthocytosis syndrome","volume":"39","year":"1982","journal-title":"Arch Neurol"},{"issue":"12","key":"key20210111065403_B5","first-page":"1056","article-title":"[Neurological disease with acanthocytosis] Symposium","volume":"20","author":"No authors listed","year":"1980","journal-title":"Clin Neurol (Tokyo)"},{"issue":"11","key":"key20210111065403_B6","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1212\/WNL.35.11.1679","article-title":"Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome)","volume":"35","year":"1985","journal-title":"Neurology"},{"issue":"1A","key":"key20210111065403_B7","first-page":"13","article-title":"Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases","volume":"114","year":"1991","journal-title":"Brain"},{"key":"key20210111065403_B8","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/978-3-540-71693-8_3","volume-title":"Neuroacanthocytosis Syndromes II","year":"2008"},{"key":"key20210111065403_B9","article-title":"Detection of PANK2 mutations in the \u201cB siblings\u201d whose Y2721C VPS13A lacks effects in cell models","year":"2020"},{"issue":"1","key":"key20210111065403_B10","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/s00415-005-0616-3","article-title":"Testing for acanthocytosis: A prospective reader-blinded study in movement disorder patients","volume":"252","year":"2005","journal-title":"J Neurol"},{"issue":"2","key":"key20210111065403_B11","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0022-510X(99)00005-2","article-title":"Late appearance of acanthocytes during the course of chorea-acanthocytosis","volume":"163","year":"1999","journal-title":"J Neurol Sci"},{"key":"key20210111065403_B12","first-page":"1678","article-title":"The phenotype of chorea-acanthocytosis: A review of 106 patients with VPS13A mutations","volume":"20","year":"2005","journal-title":"Movement Disorders"},{"key":"key20210111065403_B13","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1001\/archneur.1968.00470320036004","article-title":"Acanthocytosis and neurological disorder without betalipoproteinemia","volume":"18","year":"1968","journal-title":"Arch Neurol"},{"issue":"10","key":"key20210111065403_B14","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1001\/archneurol.2011.239","article-title":"Chorea-acanthocytosis genotype in the original Critchley Kentucky neuroacanthocytosis kindred","volume":"68","year":"2011","journal-title":"Arch Neurol"},{"issue":"4","key":"key20210111065403_B15","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1001\/archneur.1968.00480040069007","article-title":"Hereditary neurological disease with acanthocytosis, a new syndrome","volume":"19","year":"1968","journal-title":"Arch Neurol"},{"key":"key20210111065403_B16","unstructured":"Danek A, Mente, Karp B, Ramamurthy A, Scharre D. \u201cLevine Syndrome\u201d: Neither Chorea-acanthocytosis nor McLeod Syndrome? Tremor Other Hyperkinet Mov (N Y) [Internet]. 2018; 8. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6201995\/."},{"key":"key20210111065403_B17","unstructured":"Jung HH, Danek A, Walker RH, Gassner C. McLeod Neuroacanthocytosis Syndrome. In: GeneReviews\u00ae [Internet]. Seattle, WA: University of Washington, Seattle; 2019. p. 23. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1354\/."},{"issue":"5","key":"key20210111065403_B18","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1159\/000455482","article-title":"A new phenotype (McLeod) in the Kell blood-group system","volume":"6","year":"1961","journal-title":"Vox Sang"},{"issue":"12","key":"key20210111065403_B19","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1001\/jamaneurol.2018.2166","article-title":"Molecular basis and clinical overview of McLeod syndrome compared with other neuroacanthocytosis syndromes: A review","volume":"75","year":"2018","journal-title":"JAMA Neurol"},{"key":"key20210111065403_B20","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.clineuro.2018.02.039","article-title":"Novel XK mutation in a McLeod patient diagnosed after heart transplant","volume":"168","year":"2018","journal-title":"Clin Neurol Neurosurg"},{"issue":"1","key":"key20210111065403_B21","doi-asserted-by":"crossref","first-page":"37","DOI":"10.3233\/JHD-160232","article-title":"A systematic review of the Huntington disease-like 2 phenotype","volume":"6","year":"2017","journal-title":"J Huntingtons Dis"},{"key":"key20210111065403_B22","doi-asserted-by":"crossref","first-page":"512","DOI":"10.5334\/tohm.349","article-title":"Absence of acanthocytosis in Huntington\u2019s disease-like 2: A prospective comparison with Huntington\u2019s disease","volume":"7","year":"2017","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"issue":"7","key":"key20210111065403_B23","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1212\/WNL.58.7.1031","article-title":"Autosomal dominant chorea\u2013acanthocytosis with polyglutamine-containing neuronal inclusions","volume":"58","year":"2002","journal-title":"Neurology"},{"issue":"7","key":"key20210111065403_B24","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1212\/01.WNL.0000085866.68470.6D","article-title":"Huntington\u2019s disease-like 2 can present as chorea-acanthocytosis","volume":"61","year":"2003","journal-title":"Neurology"},{"issue":"1","key":"key20210111065403_B25","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1056\/NEJMoa020817","article-title":"Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome","volume":"348","year":"2003","journal-title":"N Engl J Med"},{"issue":"1","key":"key20210111065403_B26","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1212\/WNL.42.1.194","article-title":"Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)","volume":"42","year":"1992","journal-title":"Neurology"},{"issue":"11","key":"key20210111065403_B27","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1212\/WNL.58.11.1673","article-title":"HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration","volume":"58","year":"2002","journal-title":"Neurology"},{"issue":"3 Pt 1","key":"key20210111065403_B28","first-page":"487","article-title":"Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)","volume":"45","year":"1995","journal-title":"Neurology"},{"issue":"10","key":"key20210111065403_B29","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1212\/01.WNL.0000094120.09977.92","article-title":"Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic","volume":"61","year":"2003","journal-title":"Neurology"},{"key":"key20210111065403_B30","unstructured":"Danek A, Hegele RA. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology [Internet]. 2004; Available from: https:\/\/n.neurology.org\/content\/compound-heterozygous-pank2-mutations-confirm-harp-and-hallervorden-spatz-syndromes-are."},{"issue":"S1","key":"key20210111065403_B31","first-page":"P446","article-title":"Familial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy (FAPED)","volume":"31","year":"2004","journal-title":"Akt Neurol"},{"issue":"6","key":"key20210111065403_B32","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1172\/JCI34438","article-title":"GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak","volume":"118","year":"2008","journal-title":"J Clin Invest"},{"issue":"15","key":"key20210111065403_B33","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1212\/WNL.0000000000006320","article-title":"Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations","volume":"91","year":"2018","journal-title":"Neurology"},{"key":"key20210111065403_B34","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.jns.2017.03.019","article-title":"Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings","volume":"376","year":"2017","journal-title":"J Neurol Sci"},{"key":"key20210111065403_B35","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.jns.2016.09.008","article-title":"Neuroacanthocytosis: A case with unusual clinical features & novel response to treatment","volume":"370","year":"2016","journal-title":"J Neurol Sci"},{"issue":"2","key":"key20210111065403_B36","article-title":"Neuroacanthocytosis with unusual clinical features: A case report","volume":"98","year":"2019","journal-title":"Medicine (Baltimore)"},{"key":"key20210111065403_B37","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.jns.2016.12.004","article-title":"Response to \u2018Neuroacanthocytosis: A case with unusual clinical features and novel response to treatment\u2019 by Wu et al","volume":"373","year":"2017","journal-title":"J Neurol Sci"},{"issue":"1","key":"key20210111065403_B38","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.neurol.2009.03.005","article-title":"Chor\u00e9o-acanthocytose sans acanthocytes","volume":"166","year":"2010","journal-title":"Rev Neurol (Paris)"},{"key":"key20210111065403_B39","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.parkreldis.2017.05.013","article-title":"Chorea-acanthocytosis without chorea: Expanding the clinical phenotype","volume":"41","year":"2017","journal-title":"Parkinsonism Relat Disord"},{"issue":"4","key":"key20210111065403_B40","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mds.26527","article-title":"Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force","volume":"31","year":"2016","journal-title":"Mov Disord"}],"container-title":["Tremor and Other Hyperkinetic Movements"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/doi.org\/10.5334\/tohm.583","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T09:25:18Z","timestamp":1657531518000},"score":1,"resource":{"primary":{"URL":"https:\/\/tremorjournal.org\/articles\/10.5334\/tohm.583\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1,11]]}},"alternative-id":["10.5334\/tohm.583"],"URL":"https:\/\/doi.org\/10.5334\/tohm.583","relation":{},"ISSN":["2160-8288"],"issn-type":[{"value":"2160-8288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]},"article-number":"1"}}