Differential Diagnosis of Neuroacanthocytosis


Authors: J. Klempíř 1;  D. Mikulenková 2;  M. Písačka 2;  O. Klempířová 1
Authors‘ workplace: Neurologická klinika 1. LF UK a VFN, Praha 1;  Ústav klinické a experimentální hematologie 1. LF UK a ÚHKT Praha 2
Published in: Cesk Slov Neurol N 2009; 72/105(1): 24-29
Category: Review Article

Overview

Acanthocytes are atypical erythrocytes with sharp membrane protrusions. The range of di­seases classified as neuroacanthocytosis (NA) includes a variety of disorders characterised by the occurrence of acanthocytes together with neurological symptoms. The detection of acanthocytes is, however, not specific and may not necessarily be a symptom of NA. The text describes both the most frequent and rare forms of NA, their etiology, and clinical and laboratory picture. The authors propose their own differential diagnostic approach based on the incidence of atrophy of the caput nuclei caudati which can make diagnosis faster and cheaper.

Key words:
acanthocytes – blood smear – neuroacanthocytosis – chorea – atrophy of caput nuclei caudati – choreoacanthocytosis – McLeod’s syndrome – abetalipoproteinemia


Sources

1. Danek 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: 171–186.

2. De Franceschi L, Olivieri O, Corrocher R. Erythrocyte aging in neurodegenerative disorders. Cell Mol Biol 2004; 50(2): 179–185.

3. Storch A, Kornhass M, Schwarz J. Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients. J Neurol 2005; 252(1): 84–90.

4. Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 1950; 5(4): 381–387.

5. Klempír J, Roth J, Zárubová K, Písacka M, Spacková N,Tilley L. The McLeod syndrome without acanthocytes. Parkinsonism Relat Disord 2008; 14(4): 364–366.

6. Levine IM, Estes JW, Looney JB. Hereditary neurological disease with acanthocytosis, a new syndrome. Arch Neurol 1968; 19(4): 403–409.

7. Critchley EM, Clark DB, Wikler A. Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 1968; 18(2): 134–140.

8. Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997; 61(4): 899–908.

9. Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K,Tanabe H et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 2001; 28(2): 121–122.

10. Ikawa M, Yoneda M, Kuriyama M. A case of chorea-acanthocytosis onset with at age 86. Rinsho Shinkeigaku. 2005; 45(8): 603–606.

11. Hardie 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.

12. Alonso ME, Teixeira F, Jimenez G, Escobar A. Chorea-acanthocytosis: report of a family and neuropathological study of two cases. Can J Neurol Sci 1989; 16(4): 426–431.

12. Stevenson VL, Hardie RJ. Acanthocytosis and neurological disorders. J Neurol 2001; 248(2): 87–94.

13. Aasly J, Skandsen T, Rø M. Neuroacanthocytosis – the variability of presenting symptoms in two siblings. Acta Neurol Scand 1999; 100(5): 322–325.

14. Allen FH jr, Krabbe SM, Corcoran PA. A new phenotype (McLeod) in the Kell blood–group system. Vox Sang 1961; 6: 555–560.

15. Marsh WL, Marsh NJ, Moore A, Symmans WA, Johnson CL, Redman CM. Elevated serum creatine phosphokinase in subjects with McLeod syndrome. Vox Sang 1981; 40(6): 403–411.

16. Danek A, Rubio JP, Rampoldi L, Ho MF, Dobson-Stone C, Tison F et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001; 50(6): 755–764.

17. Wimer BM, Marsh WL, Taswell HF, Galey WR. Haematological changes associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 1977; 36(2): 219–224.

18. Russo D, Redman C, Lee S. Association of XK and Kell blood group proteins. J Biol Chem 1998; 273(22): 13950–13956.

19. Jung HH, Hergersberg M, Vogt M, Pahnke J, Treyer V,Rothlisberger B et al. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. Transfusion 2003; 43(7): 928–938.

20. Margolis RL, O’Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML et al. A disorder similar to Huntington’s disease is associated with a novel CAG repeat expansion. Ann Neurol 2001; 50(6): 373–380.

21. Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh P, Shashidharan P et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology 2002; 58(7): 1031–1037.

22. Walker RH, Jankovic J, O’Hearn E, Margolis RL. Phenotypic features of Huntington’s disease like 2. Mov Disord 2003; 18(12): 1527–1530.

23. Stevanin G, Camuzat A, Holmes SE, Julien C, Sahloul R, Dode C et al. CAG/CTG repeat expansions at the Huntington’s disease like 2 locus are rare in Huntington’s disease patients. Neurology 2002; 58(6): 965–967.

24. Holmes SE, O’Hearn E, Rosenblatt A, Callahan C,Hwang HS, Ingersoll-Ashworth RG et al. A repeat expansion in the gene encoding junctophilin 3 is associated with Huntington disease like 2. Nat Genet 2001; 29(4): 377–378.

25. Walker 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): 1002–1004.

26. Jolly DJ, Esty AC, Bernard HU, Friedmann T. Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase. Proc Natl Acad Sci USA 1982; 79(16): 5038–5041.

27. Roth J, Klempíř J, Jech R, Židovská J, Uhrová T, Doubek P et al. The caudate nucleus atrophy in Huntington’s disease and its relation to clinical and genetic parameters. Func Neurol 2005; 20(3):127–130.

28. Roth J, Klempíř J, Špačková N. Neuropsychologie Huntingtonovy nemoci. In: Preiss M, Kučerová O (eds). Neuropsychologie pro neurology. Praha: Grada 2006.

29. Klempíř J, Klempířová O, Roth J. Bazální ganglia a paměť. In: Hort J, Rusina R (eds). Paměť a její poruchy. Praha: Maxdorf 2008: 330–335.

30. Aylward EH, Sparks BF, Field KM, Yallapragada V, Shpritz BD, Rosenblatt A et al. Onset and rate of striatal atrophy in preclinical Huntington disease. Neurology 2004; 63(1): 66–72.

31. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. The Lancet 2004; 3(5): 291–304.

32. Al-Tahan AY, Divakaran MP, Kambouris M, Bohlega S, Salih M, Ogunniyi A et al. A novel autosomal recessive ‚Huntington‘s disease like‘ neurodegenerative disorder in a Saudi family. Saudi Med J 1999; 20: 85–89.

33. Richfield EK, Vonsattel JP, MacDonald ME, Sun ZQ, Deng A, Reiner A. Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington’s disease. Mov Disord 2002; 17(2): 327–332.

34. Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995; 57(6): 1298–1310.

35. Kane JP, Havel R. Metabolic and Molecular Basis of Inherited Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). 7th ed. New York: McGraw Hill Publishing Co 1995: 1853–1885.

36. Welty FK, Lahoz C, Tucker KL, Ordovas JM, Wilson PW, Schaefer EJ. Frequency of ApoB and ApoE gene mutations as causes of hypobetalipoproteinemia in the framingham offspring population. Arterioscler Thromb Vasc Biol 1998; 18(11): 1745–1751.

37. Dexter DT, Brooks DJ, Harding AE, Burn DJ, Muller DPR, Goss-Sampson MA et al. Nigrostriatal function in vitamin E deficiency: clinical, experimental, and positron emission tomographic studies. Ann Neurol 1994; 35(3): 298–303.

38. Kayden HJ, Traber MG. Absorption, lipoprotein transport, and regulation of plasma concentrations of vitamin E in humans. J Lipid Res 1993; 34(3): 343–358.

39. Linton MF, Farese RV jr, Young SG. Familial hypobetalipoproteinemia. J Lipid Res 1993; 34(4): 521–541.

40. Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002; 80(8): 475–491.

41. Brin MF. Acanthocytosis. In: Goetz CG, Tanner CM, Aminoff MJ (eds) Handbook of clinical neurology: Systemic diseases, Part I, vol. 19. Amsterdam: Elsevier 1993: 271–299.

42. Shoulders CC, Naoumova RP. The genes and proteins of atherogenic lipoprotein production. Biochem Soc Trans 2004; 32(1): 70–74.

43. Hammans SR, Kennedy CR. Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich‘s ataxia. J Neurol Neurosurg Psychiatry 1998; 64(3): 368–370.

44. Zarranz JJ, Gómez-Esteban JC, Atarés B, Lezcano E,Forcadas M. Tau-predominant associated pathology in a sporadic late-onset Hallervorden-Spatz syndrome. Mov Disord 2006; 21(1): 107–111.

45. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001; 28(4): 345–349.

46. Swisher CN, Menkes JH, Cancilla PA, Dodge PR. Coexistence of Hallervorden-Spatz disease with acanthocytosis. Trans Am Neurol Ass 1972; 97: 212–216.

47. Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev NW, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology 1992; 42(1): 194–198.

48. Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase associated neurodegeneration. Neurology 2002; 58(11): 1673–164.

49. Houlden 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): 1423–1426.

50. Tison F. The differential diagnosis of neuroacanthocytosis: an overview. In: Danek A (ed). Neuroacanthocytosis syndromes. Dordrecht: Springer 2004: 15–20.

51. Biemer JJ. Acanthocytosis-biochemical and physiological considerations. Ann Clin Lab Sci 1980; 10(3): 238–249.

52. Sethi KD, Adams RJ, Loring DW, el Gammal T. Hallervorden-Spatz syndrome: clinical and magnetic resonance correlations. Ann Neurol 1988; 24(5): 692–694.

53. Bruneau MA, Lespérance P, Chouinard S. Schizophrenia like presentation of neuroacanthocytosis. J Neuropsychiatry Clin Neurosci 2003; 15(3): 378–380.

54. Zeman A, Daniels G, Tilley L, Dunn M, Toplis L, Bullock T et al. McLeod Syndrome: long life neuropsychiatric disorder due to a novel mutation XK gene. Psychiatr Genet 2005; 15(4): 291–293.

Labels
Paediatric neurology Neurosurgery Neurology

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