Skip to main content

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia

Journal of Neurology volume 262, pages 768–770 (2015)Cite this article

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

Fig. 1

References

  1. Gatti RA, Berkel I, Boder E et al (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336:577–580

    CAS  Article  PubMed  Google Scholar 

  2. Taylor AM, Byrd PJ (2005) Molecular pathology of ataxia telangiectasia. J Clin Pathol 58:1009–1015

    PubMed Central  CAS  Article  PubMed  Google Scholar 

  3. Verhagen MM, Abdo WF, Willemsen MA et al (2009) Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 73:430–443

    CAS  Article  PubMed  Google Scholar 

  4. Saunders-Pullman R, Raymond D, Stoessl AJ et al (2012) Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 78:649–657

    PubMed Central  CAS  Article  PubMed  Google Scholar 

  5. Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP (2013) Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 81:1148–1151

    PubMed Central  Article  PubMed  Google Scholar 

  6. Meissner WG, Fernet M, Couturier J et al (2013) Isolated generalized dystonia in biallelic missense mutations of the ATM gene. Mov Disord 28:1897–1899

    CAS  Article  PubMed  Google Scholar 

  7. Scott SP, Bendix R, Chen P, Clark R, Dork T, Lavin MF (2002) Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci USA 99:925–930

    PubMed Central  CAS  Article  PubMed  Google Scholar 

Download references

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical standard

This study was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

Author information

Author notes

    Affiliations

    1. Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany

      Christoph Kuhm, Constanze Gallenmüller & Thomas Klopstock

    2. Munich Cluster of Systems Neurology (SyNergy), Munich, Germany

      Christoph Kuhm & Thomas Klopstock

    3. German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

      Constanze Gallenmüller & Thomas Klopstock

    4. Gynaecology Research Unit, Clinics of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany

      Thilo Dörk

    5. CeGaT GmbH-Center for Genomics and Transcriptomics, Paul-Ehrlich-Str. 17, 72076, Tübingen, Germany

      Moritz Menzel & Saskia Biskup

    Authors
    1. Christoph Kuhm
      View author publications

      You can also search for this author in PubMed Google Scholar

    2. Constanze Gallenmüller
      View author publications

      You can also search for this author in PubMed Google Scholar

    3. Thilo Dörk
      View author publications

      You can also search for this author in PubMed Google Scholar

    4. Moritz Menzel
      View author publications

      You can also search for this author in PubMed Google Scholar

    5. Saskia Biskup
      View author publications

      You can also search for this author in PubMed Google Scholar

    6. Thomas Klopstock
      View author publications

      You can also search for this author in PubMed Google Scholar

    Corresponding author

    Correspondence to Thomas Klopstock.

    Additional information

    C. Kuhm, C. Gallenmüller contributed equally to the manuscript.

    Electronic supplementary material

    Below is the link to the electronic supplementary material.

    Supplementary material 1 (M4 V 8661 kb)

    Rights and permissions

    Reprints and Permissions

    About this article

    Verify currency and authenticity via CrossMark

    Cite this article

    Kuhm, C., Gallenmüller, C., Dörk, T. et al. Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. J Neurol 262, 768–770 (2015). https://doi.org/10.1007/s00415-015-7636-4

    Download citation

    • Received:

    • Revised:

    • Accepted:

    • Published:

    • Issue Date:

    • DOI: https://doi.org/10.1007/s00415-015-7636-4

    Keywords

    • Dystonia
    • Deep Brain Stimulation
    • Ataxia Telangiectasia Mutate
    • Cervical Dystonia
    • Compound Heterozygous Mutation