References
- 1Mant M, Faragher B. The haematology of anorexia nervosa. Br J Haematol. 1972; 23(6): 737–49. DOI: 10.1111/j.1365-2141.1972.tb03488.x
- 2Danek A, Jung HH, Melone MAB, Rampoldi L, Broccoli V, Walker RH. Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci. 2005; 229–230: 171–86. DOI: 10.1016/j.jns.2004.11.024
- 3Danek A.
Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons? In: Danek A, editor. Neuroacanthocytosis Syndromes. Netherlands: Springer; 2004. p. 1–14. DOI: 10.1007/1-4020-2898-9_1 - 4Yamamoto T, Hirose G, Shimazaki K, Takado S, Kosoegawa H, Saeki M. Movement disorders of familial neuroacanthocytosis syndrome. Arch Neurol. 1982; 39(5): 298–301. DOI: 10.1001/archneur.1982.00510170040011
- 5No authors listed. [Neurological disease with acanthocytosis] Symposium. Clin Neurol (Tokyo). 1980; 20(12): 1056–84.
- 6Jankovic J, Killian JM, Spitz MC. Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome). Neurology. 1985 Nov 1; 35(11): 1679. DOI: 10.1212/WNL.35.11.1679-a
- 7Hardie RJ, Pullon HW, Harding AE, Owen JS, Pires M, Daniels GL, et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain. 1991; 114(1A): 13–49.
- 8Gandhi S, Hardie RJ, Lees AJ.
An update on the Hardie neuroacanthocytosis series . In: Walker RH, Saiki S, Danek A, editors. Neuroacanthocytosis Syndromes II. Heidelberg, Germany: Springer Berlin Heidelberg; 2008. p. 43–51. DOI: 10.1007/978-3-540-71693-8_3 - 9Danek A, Park J-S, Neiman A, Velayos-Baeza A, Miltenberger-Miltenyi G, Wagner M, et al. Detection of PANK2 mutations in the “B siblings” whose Y2721C VPS13A lacks effects in cell models. In 7th International Symposium on NBIA & Related Disorders (virtual meeting); 2020. Available from:
https://nbiascientificsymposium.org/flash-talks . - 10Storch A, Kornhass M, Schwarz J. Testing for acanthocytosis: A prospective reader-blinded study in movement disorder patients. J Neurol. 2005; 252(1): 84–90. DOI: 10.1007/s00415-005-0616-3
- 11Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V. Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci. 1999; 163(2): 175–8. DOI: 10.1016/S0022-510X(99)00005-2
- 12Danek A, Dobson-Stone C, Velayos-Baeza A, Monaco AP. The phenotype of chorea-acanthocytosis: A review of 106 patients with VPS13A mutations. Movement Disorders. 2005; 20: 1678.
- 13Critchley EMR, Clark DB, Wikler A. Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol. 1968; 18: 134–40. DOI: 10.1001/archneur.1968.00470320036004
- 14Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EMR, Monaco AP, et al. Chorea-acanthocytosis genotype in the original Critchley Kentucky neuroacanthocytosis kindred. Arch Neurol. 2011; 68(10): 1330–3. DOI: 10.1001/archneurol.2011.239
- 15Levine IM, Estes JW, Looney JM. Hereditary neurological disease with acanthocytosis, a new syndrome. Arch Neurol. 1968; 19(4): 403–9. DOI: 10.1001/archneur.1968.00480040069007
- 16Danek A, Mente, Karp B, Ramamurthy A, Scharre D.
“Levine Syndrome”: 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/ . - 17Jung HH, Danek A, Walker RH, Gassner C.
McLeod Neuroacanthocytosis Syndrome . In: GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 2019. p. 23. Available from:http://www.ncbi.nlm.nih.gov/books/NBK1354/ . - 18Allen FH, Krabbe SMR, Corcoran PA. A new phenotype (McLeod) in the Kell blood-group system. Vox Sang. 1961; 6(5): 555–60. DOI: 10.1159/000455482
- 19Roulis E, Hyland C, Flower R, Gassner C, Jung HH, Frey BM. Molecular basis and clinical overview of McLeod syndrome compared with other neuroacanthocytosis syndromes: A review. JAMA Neurol. 2018; 75(12): 1554–62. DOI: 10.1001/jamaneurol.2018.2166
- 20Laurencin C, Sebbag L, Jousserand G, Demontes M, Campean L, Thivolet-Bejui F, et al. Novel XK mutation in a McLeod patient diagnosed after heart transplant. Clin Neurol Neurosurg. 2018; 168: 64–6. DOI: 10.1016/j.clineuro.2018.02.039
- 21Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A. A systematic review of the Huntington disease-like 2 phenotype. J Huntingtons Dis. 2017; 6(1): 37–46. DOI: 10.3233/JHD-160232
- 22Anderson DG, Carmona S, Naidoo K, Coetzer TL, Carr J, Rudnicki DD, et al. Absence of acanthocytosis in Huntington’s disease-like 2: A prospective comparison with Huntington’s disease. Tremor Other Hyperkinet Mov (N Y). 2017; 7: 512. DOI: 10.5334/tohm.349
- 23Walker RH, Morgello S, Davidoff–Feldman B, Melnick A, Walsh MJ, Shashidharan P, et al. Autosomal dominant chorea–acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology. 2002; 58(7): 1031–1037. DOI: 10.1212/WNL.58.7.1031
- 24Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, et al. Huntington’s disease-like 2 can present as chorea-acanthocytosis. Neurology. 2003; 61(7): 1002–4. DOI: 10.1212/01.WNL.0000085866.68470.6D
- 25Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KHL, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003; 348(1): 33–40. DOI: 10.1056/NEJMoa020817
- 26Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology. 1992; 42(1): 194–8. DOI: 10.1212/WNL.42.1.194
- 27Ching KHL, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology. 2002; 58(11): 1673–4. DOI: 10.1212/WNL.58.11.1673
- 28Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, et al. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology. 1995; 45(3 Pt 1): 487–92. DOI: 10.1212/WNL.45.3.487
- 29Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology. 2003; 61(10): 1423–6. DOI: 10.1212/01.WNL.0000094120.09977.92
- 30Danek 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 . - 31Storch A, Brockmann K, Pekrun A, Kraft E, Walter B, Krause BJ, et al. Familial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy (FAPED). Akt Neurol. 2004; 31(S1): P446. DOI: 10.1055/s-2004-833307
- 32Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest. 2008; 118(6): 2157–68. DOI: 10.1172/JCI34438
- 33Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, et al. Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. Neurology. 2018; 91(15): 710–2. DOI: 10.1212/WNL.0000000000006320
- 34Kassubek R, Uttner I, Schönfeldt-Lecuona C, Kassubek J, Connemann BJ. Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings. J Neurol Sci. 2017; 376: 151–2. DOI: 10.1016/j.jns.2017.03.019
- 35Wu CK, Santini VE, Dittus C, Saint Hilaire MH. Neuroacanthocytosis: A case with unusual clinical features & novel response to treatment. J Neurol Sci. 2016; 370: 55–6. DOI: 10.1016/j.jns.2016.09.008
- 36Zhu H, Feng X-M, Zhao T, Liu J-Y. Neuroacanthocytosis with unusual clinical features: A case report. Medicine (Baltimore). 2019; 98(2):
e14050 . DOI: 10.1097/MD.0000000000014050 - 37Walker RH, Danek A. Response to ‘Neuroacanthocytosis: A case with unusual clinical features and novel response to treatment’ by Wu et al. J Neurol Sci. 2017; 373: 347. DOI: 10.1016/j.jns.2016.12.004
- 38Bayreuther C, Borg M, Ferrero-Vacher C, Chaussenot A, Lebrun C. Choréo-acanthocytose sans acanthocytes. Rev Neurol (Paris). 2010; 166(1): 100–3. DOI: 10.1016/j.neurol.2009.03.005
- 39Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappatà S, et al. Chorea-acanthocytosis without chorea: Expanding the clinical phenotype. Parkinsonism Relat Disord. 2017; 41: 124–6. DOI: 10.1016/j.parkreldis.2017.05.013
- 40Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, et al. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016; 31(4): 436–57. DOI: 10.1002/mds.26527
