Skip to main content
SpringerLink
Log in
Book cover

Movement Disorders Curricula pp 439–442Cite as

Neuroacanthocytosis Syndromes

  • Chapter
  • First Online:

  • 1360 Accesses

Abstract

Neuroacanthocytosis (NA) syndromes are a group of rare disorders displaying neurodegeneration and misshaped spiky red blood cells (acanthocytes) including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington’s disease-like 2, and pantothenate kinase-associated neurodegeneration (PKAN). The major clinical manifestations are movement disorders most often showing involuntary movements as the main symptom and thus being a differential diagnosis to Huntington’s disease. Additionally, cognitive decline, psychiatric disturbances, peripheral neuropathy, epilepsy, and parkinsonism appear together with blood cell acanthocytosis and elevated creatine kinase and liver enzymes. There is currently no cure for the diseases; treatment is purely symptomatic. Recent data suggests chorein being involved in actin cytoskeleton disturbances and different kinase pathways. This book chapter briefly summarizes the clinical phenotype, neuropathology, and the current state of pathophysiology of NA syndromes.

This is a preview of subscription content, 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   109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   149.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   149.00
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

Learn about institutional subscriptions

References

  1. Estes JW, Morley TJ, Levine IM, Emerson CP. A new hereditary acanthocytosis syndrome. Am J Med. 1967;42(6):868–81. Epub 1967/06/01. eng.

    Article  CAS  PubMed  Google Scholar 

  2. Levine IM, Estes JW, Looney JM. Hereditary neurological disease with acanthocytosis. A new syndrome. Arch Neurol. 1968;19(4):403–9. Epub 1968/10/01. eng.

    Article  CAS  PubMed  Google Scholar 

  3. Critchley EM, Clark DB, Wikler A. Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol. 1968;18(2):134–40. Epub 1968/02/01. eng.

    Article  CAS  PubMed  Google Scholar 

  4. Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol. 2001;50(6):755–64. Epub 2002/01/05. eng.

    Article  CAS  PubMed  Google Scholar 

  5. Dobson-Stone C, Rampoldi L, Bader B, Velayos Baeza A, Walker RH, Danek A, et al. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. Chorea-acanthocytosis. Seattle: GeneReviews; 1993.

    Google Scholar 

  6. Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet J Rare Dis. 2011;6:68. Pubmed Central PMCID: 3212896, Epub 2011/10/27. eng.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Walterfang M, Evans A, Looi JC, Jung HH, Danek A, Walker RH, et al. The neuropsychiatry of neuroacanthocytosis syndromes. Neurosci Biobehav Rev. 2011;35(5):1275–83. Epub 2011/01/18. eng.

    Article  PubMed  Google Scholar 

  8. Hermann A, Chapter 3: Chorea-acanthocytosis, in Chorea, F.E. Micheli, P.A. LeWitt (eds.), Springer; p.31–55.

    Google Scholar 

  9. Danek A, Dobson-Stone C, Velayos Baeza A, Monaco AP. The phenotype of chorea-acanthocytosis: a review of 106 patients with VPS13A mutations. 2nd International Neuroacanthocytosis Symposium: Movement Disorders; 2005. p. 1678.

    Google Scholar 

  10. 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. Epub 2005/01/18. eng.

    Article  PubMed  Google Scholar 

  11. Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med (Berl). 2002;80(8):475–91. Epub 2002/08/20. eng.

    Article  CAS  Google Scholar 

  12. Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, et al. Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. Arch Neurol. 2011;68(10):1330–3. Epub 2011/10/12. eng.

    Article  PubMed  PubMed Central  Google Scholar 

  13. De Franceschi L, Scardoni G, Tomelleri C, Danek A, Walker RH, Jung HH, et al. Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis. PLoS One. 2012;7(2):e31015. Pubmed Central PMCID: 3280254, Epub 2012/02/23. eng.

    Article  PubMed  PubMed Central  Google Scholar 

  14. De Franceschi L, Tomelleri C, Matte A, Brunati AM, Bovee-Geurts PH, Bertoldi M, et al. Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity. Blood. 2011;118(20):5652–63. Pubmed Central PMCID: 3217364, Epub 2011/09/29. eng.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Slavova-Azmanova NS, Kucera N, Satiaputra J, Stone L, Magno A, Maxwell MJ, et al. Gain-of-function Lyn induces anemia: appropriate Lyn activity is essential for normal erythropoiesis and Epo receptor signaling. Blood. 2013;122(2):262–71. Epub 2013/05/23. eng.

    Article  CAS  PubMed  Google Scholar 

  16. Foller M, Hermann A, Gu S, Alesutan I, Qadri SM, Borst O, et al. Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis. FASEB J. 2012;26(4):1526–34. Epub 2012/01/10. eng.

    Article  PubMed  Google Scholar 

  17. Schmidt EM, Schmid E, Munzer P, Hermann A, Eyrich AK, Russo A, et al. Chorein sensitivity of cytoskeletal organization and degranulation of platelets. FASEB J. 2013;27(7):2799–806. Epub 2013/04/10. eng.

    Article  CAS  PubMed  Google Scholar 

  18. Russo DC, Oyen R, Powell VI, Perry S, Hitchcock J, Redman CM, et al. First example of anti-Kx in a person with the McLeod phenotype and without chronic granulomatous disease. Transfusion. 2000;40(11):1371–5. Epub 2000/12/02. eng.

    Article  CAS  PubMed  Google Scholar 

  19. Rivera A, Kam SY, Ho M, Romero JR, Lee S. Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis. Blood Cells Mol Dis. 2013;50(2):80–5. Pubmed Central PMCID: 3540154, Epub 2012/11/06. eng.

    Article  CAS  PubMed  Google Scholar 

  20. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348(1):33–40. Epub 2003/01/03. eng.

    Article  CAS  PubMed  Google Scholar 

  21. 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):377–8. Epub 2001/11/06. eng.

    Article  CAS  PubMed  Google Scholar 

  22. 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):1002–4. Epub 2003/10/15. eng.

    Article  CAS  PubMed  Google Scholar 

  23. Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O’Hearn E, Ross CA, et al. Huntington’s disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004;56(5):670–4. Epub 2004/10/07. eng.

    Article  CAS  PubMed  Google Scholar 

  24. Walker RH, Jankovic J, O’Hearn E, Margolis RL. Phenotypic features of Huntington’s disease-like 2. Mov Disord. 2003;18(12):1527–30. Epub 2003/12/16. eng.

    Article  PubMed  Google Scholar 

Download references

Acknowledgment

The author is supported by the Advocacy for Neuroacanthocytosis Patients and by the Federal Ministry of Education and Research (BMBF, 01GM1303) under the frame of E-Rare-2, the ERA-Net for Research on Rare Diseases (www.emina2.de).

Author information

Authors and Affiliations

  1. Department of Neurology, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Germany

    Andreas Hermann M.D., Ph.D.

  2. DZNE, German Centre for Neurodegenerative Diseases, Research Site Dresden, 01307, Dresden, Germany

    Andreas Hermann M.D., Ph.D.

Authors
  1. Andreas Hermann M.D., Ph.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Andreas Hermann M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Faculty of Medicine, Transilvania University, Brasov, Romania

    Cristian Falup-Pecurariu

  2. Laboratory of Clinical Pharmacology and Therapeutics, Faculty of Medicine, Lisbon, Portugal

    Joaquim Ferreira

  3. National Center of Epidemiology and CIBERNED, Carlos III Institute of Health, Madrid, Spain

    Pablo Martinez-Martin

  4. Centre of Excellence, King’s College London, National Parkinson Foundation Centre of Excellence King’s College, London, United Kingdom

    Kallol Ray Chaudhuri

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer-Verlag Wien

About this chapter

Cite this chapter

Hermann, A. (2017). Neuroacanthocytosis Syndromes. In: Falup-Pecurariu, C., Ferreira, J., Martinez-Martin, P., Chaudhuri, K. (eds) Movement Disorders Curricula. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1628-9_44

Download citation

  • DOI: https://doi.org/10.1007/978-3-7091-1628-9_44

  • Published:

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-1627-2

  • Online ISBN: 978-3-7091-1628-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation