“Virtual Neuroacanthocytosis Institute”: A Look Forward

  • A. Danek
  • B. Bader

Five years after the initial symposium in Seeon, Germany, international cooperation in the field of neuroacanthocytosis is well established. Improved recognition of the individual diseases now forms the basis for standardized observation in the context of a web-based collection of cases that may be uncommon locally, but are nevertheless amenable to systematic investigation if accumulated across and between continents.

The neuroacanthocytosis submodule (www.euro-hd.net/html/na/submodule) within the European Huntington’s Disease Network should eventually provide the basis for observational treatment studies and may transform into a veritable “Virtual Neuroacanthocytosis Institute.”

Keywords

Deep Brain Stimulation Botulinum Toxin Injection Standardize Observation Clin Neurol Global Occurrence 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Balhara YPS, Varghese ST, Kayal M (2006) Neuroacanthocytosis: presenting with depression. J Neuropsychiatry Clin Neurosci 18:426.PubMedGoogle Scholar
  2. 2.
    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.CrossRefPubMedGoogle Scholar
  3. 3.
    Bonakis A, Agathonikou A, Sarrigiannis P et al. (2001) Neuroacanthocytosis presenting with epilepsy in two siblings. Seventh Mediterranean Epilepsy Conference.Google Scholar
  4. 4.
    Boughammoura-Bouatay A, Karmani M, Chebel S et al. (2005) Neuroacanthocytose et épilepsie. Rev Méd Interne 26:756–758.CrossRefPubMedGoogle Scholar
  5. 5.
    Claperon A, Hattab C, Armand V et al. (2007) The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. Brain Res 1147:12–24.CrossRefPubMedGoogle Scholar
  6. 6.
    Danek A, Bader B (2007) Chorein Western blot instructions. http://www.nefo.med.uni-muenchen.de/ adanek/Chorein_Blot.pdf.
  7. 7.
    Danek A (2004) Research agenda in neuroacanthocytosis. In: Danek A (ed) Neuroacanthocytosis syndromes. Springer, Dordrecht, The Netherlands, pp 269–275.CrossRefGoogle Scholar
  8. 8.
    Danek A, Dobson-Stone C, Velayos-Baeza A et al. (2006) The phenotype of chorea-acanthocytosis: a review of 106 patients with VPS13A mutations. Mov Disord 20:1678.Google Scholar
  9. 9.
    Danek A, Jung HH, Melone MAB et al. (2005) Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci 229–230:171–186.CrossRefPubMedGoogle Scholar
  10. 10.
    Danek A, Rubio JP, Rampoldi L et al. (2001) McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50:755–764.CrossRefPubMedGoogle Scholar
  11. 11.
    Danek A, Walker RH (2005) Neuroacanthocytosis. Curr Opin Neurol 18:386–392.CrossRefPubMedGoogle Scholar
  12. 12.
    Dobson-Stone C, Rampoldi L, Velayos-Baeza A et al. (2006) Chorea-acanthocytosis [ChAc, Choreoacanthocytosis]. http://www.geneclinics.org/profiles.chac.
  13. 13.
    Dobson-Stone C, Velayos-Baeza A, Filippone LA et al. Chorein detection for the diagnosis of chorea-acanthocytosis. (2004) Ann Neurol 56:299–302.CrossRefPubMedGoogle Scholar
  14. 14.
    Gökçay F, Çolako˘glu Z (2003) Koreakantositoz 3 olgu sunumu [Turkish]. Türk Nöroloji Der 9:103–109.Google Scholar
  15. 15.
    Harirchian MH, Maghbooli M, Shirani A (2006) A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia. Neurol India 54:296–297.CrossRefPubMedGoogle Scholar
  16. 16.
    Ikawa M, Yoneda M, Kuriyama M (2005) A case of chorea-acanthocytosis with onset at age 86 [Japanese]. Clin Neurol (Tokyo) 45:603–606.Google Scholar
  17. 17.
    Jung HH, Danek A, Dobson-Stone C et al. (2007) McLeod neuroacanthocytosis syndrome. http://www.geneclinics.org/profiles/mcleod.
  18. 18.
    Kayahan B, Özdemir F, Bora E et al. (2005) Neuroacanthocytosis: a case report [Turkish]. Turkiye Klinikleri J Med Sci 25:576–580.Google Scholar
  19. 19.
    Kurano Y, Nakamura M, Ichiba M et al. (2007) In vivo distribution and localization of chorein. Biochem Biophys Res Commun 353:431–435.CrossRefPubMedGoogle Scholar
  20. 20.
    Lee S, Sha Q, Wu X et al. (2007) Expression profiles of mouse Kell, XK, and XPLAC mRNA. J Histochem Cytochem 55:365–374.CrossRefPubMedGoogle Scholar
  21. 21.
    Lin FC, Wei LJ, Shih PY (2006) Effect of levetiracetam on truncal tic in neuroacanthocytosis. Acta Neurol Taiwan 15:38–42.PubMedGoogle Scholar
  22. 22.
    Liu SP, Li DN, Wang SZ et al. (2001) Familial neuroacanthocytosis [Chinese]. Chin J Neurol 34:16–18.Google Scholar
  23. 23.
    Miranda M, Castiglioni C, Frey BM et al. (2007) Phenotypic variability of a distinct deletion in McLeod syndrome. Mov Disord 22:1358–1361.CrossRefPubMedGoogle Scholar
  24. 24.
    Mizuno E, Nakamura M, Agemura A et al. (2007) Brain-specific transcript variants of 52 and 3 ends of mouse VPS13A and VPS13C. Biochem Biophys Res Commun 353:902–907.CrossRefPubMedGoogle Scholar
  25. 25.
    Tiftikcioglu BI, Dericioglu N, Saygi S (2006) Focal seizures originating from the left temporal lobe in a case with chorea-acanthocytosis. Clin EEG Neurosci 37:46–49.PubMedGoogle Scholar
  26. 26.
    Türe S, Bilgin R, Gedizlioglu M (2006) Neuroacanthocytosis: report of 2 cases [Turkish]. Parkinson Hast Hareket Boz Der 9:38–43.Google Scholar
  27. 27.
    Walker RH, Danek A, Dobson-Stone C et al. (2006) Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes. Mov Disord 21:1794–1805.CrossRefPubMedGoogle Scholar
  28. 28.
    Walker RH, Jung HH, Dobson-Stone C et al. (2007) Neurologic phenotypes associated with acanthocytosis. Neurology 68:92–98.CrossRefPubMedGoogle Scholar
  29. 29.
    Zheng BR, Han H, Qi ZZ et al. (1989) A case report of chorea-acanthocytosis [Chinese]. Harbin Med Univ Bull 23:126–127.Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2008

Authors and Affiliations

  • A. Danek
    • B. Bader
      • 1
    1. 1.Zentrum für Neuropathologie und PrionforschungLudwig-Maximilians-UniversitätMünchenGermany

    Personalised recommendations