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Autosomal recessive transmission of chorea-acanthocytosis confirmed

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References

  1. Anonymous (2011) Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis. Neurology 77:701

    Google Scholar 

  2. Bader B, Velayos-Baeza A, Walker RH, Danek A (2009) Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative. Acta Neuropathol 117:95–96 (author reply 97–98)

    Article  PubMed  Google Scholar 

  3. Ichiba M, Nakamura M, Kusumoto A, Mizuno E, Kurano Y, Matsuda M, Kato M, Agemura A, Tomemori Y, Muroya S, Nakabeppu Y, Sano A (2007) Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. J Neurol Sci 263:124–132

    Article  PubMed  CAS  Google Scholar 

  4. Ishida C, Makifuchi T, Saiki S, Hirose G, Yamada M (2009) A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A. Acta Neuropathol 117:85–94

    Article  PubMed  Google Scholar 

  5. Ishida C, Saiki S, Yamada M (2009) Reply: chorea-acanthocytosis with an autosomal-dominant trait. Acta Neuropathol 117:97–98

    Article  Google Scholar 

  6. Saiki S, Hirose G, Sakai K, Matsunari I, Higashi K, Saiki M, Kataoka S, Hori A, Shimazaki K (2004) Chorea-acanthocytosis associated with Tourettism. Mov Disord 19:833–836

    Article  PubMed  Google Scholar 

  7. Saiki S, Sakai K, Kitagawa Y, Saiki M, Kataoka S, Hirose G (2003) Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis. Neurology 61:1614–1616

    Article  PubMed  CAS  Google Scholar 

  8. Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupre N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzinska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A (2011) Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. Am J Med Genet B Neuropsychiatr Genet 156B:620–631

    PubMed  Google Scholar 

  9. Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH (2011) Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. Arch Neurol 68:1330–1333

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Neurologische Klinik und Poliklinik, Klinikum der Universität München, Munich, Germany

    Adrian Danek & Benedikt Bader

  2. Wellcome Trust of Human Genetics, Oxford University, Oxford, UK

    Antonio Velayos-Baeza

  3. Department of Neurology, James J. Peters Veterans Affairs Medical Center & The Mount Sinai School of Medicine, New York, USA

    Ruth H. Walker

Authors
  1. Adrian Danek
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  2. Benedikt Bader
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  3. Antonio Velayos-Baeza
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  4. Ruth H. Walker
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Correspondence to Benedikt Bader.

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Danek, A., Bader, B., Velayos-Baeza, A. et al. Autosomal recessive transmission of chorea-acanthocytosis confirmed. Acta Neuropathol 123, 905–906 (2012). https://doi.org/10.1007/s00401-012-0971-y

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  • DOI: https://doi.org/10.1007/s00401-012-0971-y

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