Skip to main content
Log in

A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14

  • 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

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

Instant access to the full article PDF.

Fig. 1

References

  1. Durr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 9:885–894

    Article  PubMed  CAS  Google Scholar 

  2. Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G (2005) New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14. Ann Neurol 58:720–729

    Article  PubMed  CAS  Google Scholar 

  3. Dalski A, Mitulla B, Bürk K, Schattenfroh C, Schwinger E, Zühlke C (2006) Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. J Neurol 253:1111–1112

    Article  PubMed  CAS  Google Scholar 

  4. Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM (2012) SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Acta Neurol Scand 125:116–122

    Article  PubMed  CAS  Google Scholar 

  5. Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH (2003) Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839–849

    Article  PubMed  CAS  Google Scholar 

  6. Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N (2008) Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem 283:19854–19863

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We thank the members of our laboratory, especially Ms. Ando Y., for genetic testing.

Conflicts of interest

All authors report no conflicts of interest.

Ethical standard

This study has been approved by the appropriate ethics committee and has, therefore, been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Takehiro Ueda.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ueda, T., Seki, T., Katanazaka, K. et al. A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14. J Neurol 260, 1664–1666 (2013). https://doi.org/10.1007/s00415-013-6916-0

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-013-6916-0

Keywords

Navigation