Skip to main content
SpringerLink
Log in

Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons?

  • Chapter
Neuroacanthocytosis Syndromes

Abstract

Neuroacanthocytosis is an umbrella term for neurological conditions that occur together with misshapen acanthocytic red cells. Although the name is used largely synonymously with Levine-Critchley syndrome, it is hard to decide what exactly the three Levine-Critchley families, which originated in the US and the UK, suffered from. None of them has yet been re-investigated with the modern methods that allow increasing distinctions within neuroacanthocytosis. How one distinct subtype of neuroacanthocytosis was recognized through an uncommon Kell blood type is vividly illustrated by letters of the eponymous propositus McLeod. The X-linked gene XK that underlies McLeod neuroacanthocytosis was discovered in 1994. In 2001 and 2003, the genes CHAC and JPH3 involved in an autosomal-recessive and an autosomal-dominant type of neuroacanthocytosis were identified. Pantothenate kinase associated neurodegeneration can be seen as another neuroacanthocytosis subtype. How is a disorder that mainly affects nerve cells related to the bizarre shape of red blood cells? This question is all the more pressing now that such a variety of origins has been discovered for the one common outcome of neuroacanthocytosis, progressive basal ganglia degeneration.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Allen FH, Krabbe SMR, Corcoran PA (1961) A new phenotype (McLeod) in the Kell blood-group system. Vox Sang 6: 555–560.

    PubMed  Google Scholar 

  2. Aminoff MJ (1972) Acanthocytosis and neurological disease. Brain 95: 749–760.

    PubMed  CAS  Google Scholar 

  3. Bird TD, Cederbaum S, Valpey RW, Stahl WL (1978) Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological, and neurochemical study. Ann Neurol 3: 253–258.

    Article  PubMed  CAS  Google Scholar 

  4. Bohlega S, Riley W, Powe J, Baynton R, Roberts G (1998) Neuroacanthocytosis and aprebetalipoproteinemia. Neurology 50: 1912–1914.

    PubMed  CAS  Google Scholar 

  5. Bohlega S, Al Jishi A, Dobson-Stone C et al (2003) Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Mov Disord 18: 403–407.

    Article  PubMed  Google Scholar 

  6. Brin MF (1993) Acanthocytosis. In: Goetz CG, Tanner CM, Aminoff MJ (eds) Handbook of Clinical Neurology, Vol. 19(63): Systemic Diseases, Part I, pp 271–299. Elsevier, Amsterdam.

    Google Scholar 

  7. Ching KHL, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ (2002) HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology 58: 1673–1674.

    PubMed  CAS  Google Scholar 

  8. Critchley EMR, Clark DB, Wikler A (1967) An adult form of acanthocytosis. Trans Am Neurol Assoc 92: 132–137.

    PubMed  CAS  Google Scholar 

  9. Critchley EMR, Clark DB, Wikler A (1968) Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 18: 134–140.

    PubMed  CAS  Google Scholar 

  10. Critchley EMR, Betts JJ, Nicholson JT, Weatherall DJ (1970) Acanthocytosis, normolipoproteinemia and multiple tics. Postgrad Med J 46: 698–701.

    Article  PubMed  CAS  Google Scholar 

  11. Critchley EMR (1971) Acanthocytosis associated with tics and involuntary movements. Z Neurol 200: 336–340.

    Article  Google Scholar 

  12. Danek A, Rubio JP, Rampoldi L et al (2001) McLeod neuroacanthocytosis: Genotype and phenotype. Ann Neurol 50: 755–764.

    Article  PubMed  CAS  Google Scholar 

  13. Danek A, Tison F, Rubio J et al (2001) The chorea of McLeod syndrome. Mov Dis 16: 882–889.

    Article  CAS  Google Scholar 

  14. Danek A, Uttner I, Vogl T, Tatsch K, Witt TN (1994) Cerebral involvement in McLeod syndrome. Neurology 44: 117–120.

    PubMed  CAS  Google Scholar 

  15. Dobson-Stone C, Danek A, Rampoldi L et al (2002) Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10: 773–781.

    Article  PubMed  CAS  Google Scholar 

  16. Estes JW, Morley TJ, Levine IM, Emerson CP (1967) A new hereditary acanthocytosis syndrome. Am J Med 42: 868–881.

    Article  PubMed  CAS  Google Scholar 

  17. Faillace RT, Kingston WJ, Nanda NC, Griggs RC (1982) Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis. Ann Intern Med 96: 616–617.

    PubMed  CAS  Google Scholar 

  18. Fotopulos D (1966) Huntington-Chorea und chronisch-progressive spinale Muskelatrophie. Psychiat Neurol med Psychol (Leipzig) 18: 63–71.

    CAS  Google Scholar 

  19. Frank G, Vuia O (1973) Chorea Huntington — Amyotrophische Lateralsklerose — Spastische Spinalparalyse. Zur Kombination von Systemerkrankungen. Z Neurol 205: 207–220.

    Article  PubMed  CAS  Google Scholar 

  20. Galey WR, Evan AP, Van Nice PS et al (1978) Morphology and physiology of the McLeod erythrocyte. Vox Sang 34: 152–161.

    PubMed  CAS  Google Scholar 

  21. Glaubensklee CS, Evan AP, Galey WR (1982) Structural and biochemical analysis of the McLeod erythrocyte membrane. Vox Sang 42: 262–271.

    Article  PubMed  CAS  Google Scholar 

  22. Grotjahn M (1934) Chronische, progressive Chorea und spinale Muskelatrophie. Zentralbl gesamte Neurol Psychiatr 73: 251–253.

    Google Scholar 

  23. Hanaoka N, Yoshida K, Nakamura A et al (1999) A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. J Neurol Sci 165: 6–9.

    Article  PubMed  CAS  Google Scholar 

  24. Hardie RJ, Pullon HWH, Harding AE et al (1991) Neuroacanthocytosis: A clinical, haematological and pathological study of 19 cases. Brain 114: 13–49.

    PubMed  Google Scholar 

  25. Higgins JJ, Patterson MC, Papadopoulos NM et al (1992) Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology 42: 194–198.

    PubMed  CAS  Google Scholar 

  26. Ho M, Chelly J, Carter N et al (1994) Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77: 869–880.

    Article  PubMed  CAS  Google Scholar 

  27. Ho MF, Chalmers RM, Davis MB, Harding AE, Monaco AP (1996) A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann Neurol 39: 672–675.

    Article  PubMed  CAS  Google Scholar 

  28. Hopf A (1952) Über eine patho-anatomische Sonderform der Chorea. J Nerv Ment Dis 116: 608–618.

    Article  PubMed  CAS  Google Scholar 

  29. Ishikawa S, Tachibana N, Tabata KI et al (2000) Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis. Muscle Nerve 23: 1113–1116.

    Article  PubMed  CAS  Google Scholar 

  30. Jankovic J, Killian JM, Spitz MC (1985) Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome). Neurology 35: 1679.

    Google Scholar 

  31. Johnson SE, Dahl A, Sjaastad O (1998) Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same family. Mov Dis 13: 556–562.

    Article  CAS  Google Scholar 

  32. Jung HH, Hergersberg M, Kneifel S et al (2001) McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 49: 384–392.

    Article  PubMed  CAS  Google Scholar 

  33. Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW (2003) Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology 61: 1423–1426.

    PubMed  CAS  Google Scholar 

  34. Kawakami T, Takiyama Y, Sakoe K et al (1999) A case of McLeod syndrome with unusually severe myopathy. J Neurol Sci 166: 36–39.

    Article  PubMed  CAS  Google Scholar 

  35. Kito S, Itoga E, Hiroshige Y, Matsumoto N, Miwa S (1980) A pedigree of amyotrophic chorea with acanthocytosis. Arch Neurol 37: 514–517.

    PubMed  CAS  Google Scholar 

  36. Lange H, Thorner G, Hopf A, Schröder KF (1976) Morphometric studies of the neuropathological changes in choreatic diseases. J Neurol Sci 28: 401–425.

    Article  PubMed  CAS  Google Scholar 

  37. Lerche H, Storch A, Pekrun A et al (2000) A novel form of autosomal dominant neuroacanthocytosis with exertion-induced paroxysmal dyskinesias. J Neurol 247Suppl 3: III/18.

    Google Scholar 

  38. Levine IM, Yettra M, Stefanini M (1960) A hereditary neurological disorder with acanthocytosis. Neurology 10: 425.

    Google Scholar 

  39. Levine IM (1964) An hereditary neurological disease with acanthocytosis. Neurology 14: 272.

    Google Scholar 

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

    PubMed  CAS  Google Scholar 

  41. Malandrini A, Fabrizi GM, Bartalucci P et al (1996) Clinicopathological study of familial late infantile Hallervorden-Spatz disease: A particular form of neuroacanthocytosis. Child’s Nerv Syst 12: 155–160.

    Article  CAS  Google Scholar 

  42. Malandrini A, Fabrizi GM, Palmeri S et al (1993) Choreo-acanthocytosis like phenotype without acanthocytes: Clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus. Acta Neuropathol (Berl) 86: 651–658.

    Article  CAS  Google Scholar 

  43. Marsh WL (1983) Deleted antigens of the Rhesus and Kell blood groups: Association with cell membrane defects. In: Garraty G (ed) Blood group antigens and disease, pp 165–185. American Association of Blood Banks, Arlington, Virginia.

    Google Scholar 

  44. Marsh WL, Øyen R, Nichols ME, Allen FH (1975) Chronic granulomatous disease and the Kell blood groups. Br J Haematol 29: 247–262.

    PubMed  CAS  Google Scholar 

  45. Mukoyama M, Kazui H, Sunohara N et al (1986) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: A clinicopathological study of a unique case. J Neurol 233: 228–232.

    Article  PubMed  CAS  Google Scholar 

  46. O’Brien CF, Schwarz H, Kurland R (1990) Neuroacanthocytosis without acanthocytes. Mov Dis 5(Suppl. 1): 98.

    Google Scholar 

  47. Orrell RW, Amrolia PJ, Heald A et al (1995) Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 45: 187–192.

    Google Scholar 

  48. Pageot N, Vial C, Remy C, Chazot G, Broussolle E (2000) Progressive chorea and amyotrophy without acanthocytes: a new case of Fotopoulos syndrome? J Neurol 247: 392–394.

    Article  PubMed  CAS  Google Scholar 

  49. Piccolo I, Defanti CA, Soliveri P et al (2003) Cause and course in a series of patients with sporadic chorea. J Neurol 250: 429–435.

    Article  PubMed  Google Scholar 

  50. Rampoldi L, Dobson-Stone C, Rubio JP et al (2001) A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28: 119–120.

    Article  PubMed  CAS  Google Scholar 

  51. Rovito DA, Pirone FJ (1963) Acanthrocytosis associated with schizophrenia. Am J Psychiatry 120: 182–185.

    PubMed  CAS  Google Scholar 

  52. Rowland LP (1988) Clinical concepts of Duchenne muscular dystrophy — the impact of molecular genetics. Brain 111: 479–495.

    PubMed  Google Scholar 

  53. Rubio A, Steinberg K, Figlewicz DA et al (1996) Coexistence of Huntington’s disease and familial amyotrophic lateral sclerosis: Case presentation. Acta Neuropathol (Berl) 92: 421–427.

    Article  CAS  Google Scholar 

  54. Rubio JP, Danek A, Stone C et al (1997) Chorea-acanthocytosis: Genetic linkage to chromosome 9q21. Am J Hum Genet 61: 899–908.

    PubMed  CAS  Google Scholar 

  55. Sakai T, Iwashita H, Kakugawa M (1985) Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome). Neurology 35: 1679.

    PubMed  CAS  Google Scholar 

  56. Sakai T, Mawatari S, Iwashita H, Goto I, Kuroiwa Y (1981) Choreoacanthocytosis. Clues to clinical diagnosis. Arch Neurol 38: 335–338.

    PubMed  CAS  Google Scholar 

  57. Schwartz SA, Marsh WL, Symmans A, Johnson CL, Mueller KA (1982) “New” clinical features of McLeod syndrome. Transfusion 22: 404.

    Google Scholar 

  58. Serratrice G, Crémieux G, Pélissier JF, Pouget J (1984) Deux cas de syndrome de Fotopoulos (amyotrophie spinale chronique de la ceinture scapulaire et chorée chronique). Presse Méd 13: 1274.

    PubMed  CAS  Google Scholar 

  59. Shibasaki H, Sakai T, Nishimura H et al (1982) Involuntary movements in chorea-acanthocytosis: A comparison with Huntington’s chorea. Ann Neurol 12: 311–314.

    Article  PubMed  CAS  Google Scholar 

  60. Sorrentino G, De Renzo A, Miniello S, Nori O, Bonvita V (1999) Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci 163: 175–178.

    Article  PubMed  CAS  Google Scholar 

  61. Spencer SE, Walker FO, Moore SA (1987) Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis. Neurology 37: 645–649.

    PubMed  CAS  Google Scholar 

  62. Spitz MC, Jankovic J, Killian JM (1985) Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: A new syndrome. Neurology 35: 366–370.

    PubMed  CAS  Google Scholar 

  63. Sumner D (1962) Amyotrophy in a family with Huntington’s chorea. World Neurol 3: 769–777.

    PubMed  CAS  Google Scholar 

  64. Swash M, Schwartz MS, Carter ND et al (1983) Benign X-linked myopathy with acanthocytes (McLeod syndrome), its relationship to X-linked muscular dystrophy. Brain 106: 717–733.

    PubMed  Google Scholar 

  65. Swisher CN, Menkes JH, Cancilla PA, Dodge PR (1972) Coexistence of Hallervorden-Spatz disease with acanthocytosis. Trans Am Neurol Assoc 97: 212–216.

    Google Scholar 

  66. Symmans WA, Shepherd CS, Marsh WL et al (1979) Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 42: 575–583.

    PubMed  CAS  Google Scholar 

  67. Toyokura Y, Kamakura K, Shimada Y (1982) Familial chorea-acanthocytosis (the Levine-Critchley syndrome) — A review of the reported cases in Japan. In: The ministry of health and welfare of Japan (ed) Annual report of the research committee of CNS degenerative diseases, pp 335–351

    Google Scholar 

  68. Tsai C-H, Chen R-S, Chang H-C, Lu C-S, Liao K-K (1997) Acanthocytosis and spinocerebellar degeneration: A new association? Mov Dis 12: 456–459.

    Article  CAS  Google Scholar 

  69. Ueno E, Oguchi K, Yanagisawa N (1982) Morphological abnormalities of erythrocyte membrane in the hereditary neurological disease with chorea, areflexia and acanthocytosis. A study with freeze fracture electron microscopy. J Neurol Sci 56: 89–97.

    Article  PubMed  CAS  Google Scholar 

  70. Ueno S, Maruki Y, Nakamura M et al (2001) The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28: 121–122.

    Article  PubMed  CAS  Google Scholar 

  71. Ueyama H, Kumamoto T, Nagao S et al (2000) A novel mutation of the McLeod syndrome gene in a Japanese family. J Neurol Sci 176: 151–154.

    Article  PubMed  CAS  Google Scholar 

  72. Vogt C, Vogt O (1937) Sitz und Wesen der Krankheiten im Lichte der topistischen Hirnforschung und des Variierens der Tiere. Erster Teil: Befunde der topistischen Hirnforschung als Beitrag zur Lehre vom Krankheitssitz. J.A.Barth, Leipzig.

    Google Scholar 

  73. Walker RH, Melnick A, Walsh M, Davidoff-Feldman B, Brin MF (1997) Dominantly inherited chorea-parkinsonism-dementia-acanthocytosis with red cell protein membrane abnormalities. Ann Neurol 42: 407–408.

    Google Scholar 

  74. Walker RH, Morgello S, Davidoff-Feldman B et al (2002) Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology 58: 1031–1037.

    PubMed  CAS  Google Scholar 

  75. Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B, Margolis RL (2003) Huntington’s disease-like 2 can present as chorea-acanthocytosis. Neurology 61: 1002–1004.

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  77. Witt TN, Danek A, Reiter M et al (1992) McLeod syndrome: A distinct form of neuroacanthocytosis. J Neurol 239: 302–306.

    Article  PubMed  CAS  Google Scholar 

  78. Yamamoto T, Hirose G, Shimazaki K et al (1982) Movement disorders of familial neuroacanthocytosis syndrome. Arch Neurol 39: 298–301.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München, Germany

    Adrian Danek

Authors
  1. Adrian Danek
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Neurologische Klinik, Ludwig-Maximilians Universität München, Germany

    Adrian Danek

Rights and permissions

Reprints and permissions

Copyright information

© 2004 Springer

About this chapter

Cite this chapter

Danek, A. (2004). Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons?. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_1

Download citation

Publish with us

Policies and ethics

Search

Navigation