Skip to main content

Advertisement

SpringerLink
Log in

Unexpected clinicopathological phenotype linked to small elongation of CAG repeat in SCA1 gene

  • LETTER TO THE EDITORS
  • Published:
Journal of Neurology Aims and scope Submit manuscript

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Duyckaerts C, Dürr A, Cancel G, Brice A (1999) Nuclear inclusions in spinocerebellar ataxia type 1. Acta Neuropathol (Berl) 97:201–207

    Article  CAS  PubMed  Google Scholar 

  2. Iwabuchi K, Tsuchiya K, Uchihara T, Yagishita S (1999) Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations. Rev Neurol (Paris) 155:255–270

    CAS  PubMed  Google Scholar 

  3. Koyano S, Iwabuchi K, Yagishita S, Kuroiwa Y, Uchihara T (2002) Paradoxical absence of nuclear inclusion in cerebellar Purkinje cells of hereditary ataxias linked to CAG expansion. J Neurol Neurosurg. Psychiatry 73:453–455

    Google Scholar 

  4. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221–226

    Article  CAS  PubMed  Google Scholar 

  5. Yakura H, Wakisaka A, Fujimoto S, Itakura K (1974) Hereditary ataxia and HLA genotype. N Engl J Med 291:154–155

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Nakano General Hospital, Tokyo, Japan

    T. Uchihara

  2. Department of Medicine, Tokyo Metropolitan Institute for Neuroscience, Nakano General Hospital, Tokyo, Japan

    Y. Takeda

  3. Department of Neurology, Nakano General Hospital, 1-59-16 Chuo, Nakano-ku, Tokyo 164-8607, Japan

    T. Kobayashi

  4. Department of Pathology, Tokyo Metropolitan Institute for Neuroscience, Nakano General Hospital, Tokyo, Japan

    T. Kasuga

  5. Department of Neurology, Tokyo Medical and Dental University, Tokyo

    K. Ishikawa MD, K. Kirei & H. Mizusawa

  6. Department of Pathology, Tokyo Medical and Dental University, Tokyo

    T. Endo & K. Hirokawa

  7. Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, Tokyo

    T. Kuroiwa

Authors
  1. T. Uchihara
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Y. Takeda
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. T. Kobayashi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. T. Kasuga
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. K. Ishikawa MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. K. Kirei
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. H. Mizusawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. T. Endo
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. K. Hirokawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. T. Kuroiwa
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to T. Kobayashi.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Uchihara, T., Takeda, Y., Kobayashi, T. et al. Unexpected clinicopathological phenotype linked to small elongation of CAG repeat in SCA1 gene. J Neurol 253, 396–398 (2006). https://doi.org/10.1007/s00415-005-0980-z

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-005-0980-z

Keywords

Search

Navigation