Journal of Neurology

, Volume 262, Issue 3, pp 768–770 | Cite as

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

  • Christoph Kuhm
  • Constanze Gallenmüller
  • Thilo Dörk
  • Moritz Menzel
  • Saskia Biskup
  • Thomas KlopstockEmail author
Letter to the Editors

Dear Sirs,

Ataxia-telangiectasia (A-T) is an autosomal recessive inherited disease with a prevalence of 1:40.000–1:100.000 which is characterized by progressive childhood-onset cerebellar ataxia, oculomotor apraxia, telangiectasias of the conjunctivae, hypersensitivity to ionizing radiation, and immunodeficiency. The disease is caused by mutations of the Ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22-23 [1]. ATM encodes the 350 kDa ATM protein, a nuclear serine/threonine protein kinase which is crucial in the cellular response to DNA damage such as double-strand breaks. Classic A-T is caused by two truncating ATM mutations which lead to a total loss of ATM protein resulting in an impaired cell cycle [2].

Additionally, non-classic forms exist where some residual ATM kinase function is maintained. These forms are summarized as variant A-T, including incomplete and atypical phenotypes, e.g., with ataxia plus extrapyramidal symptoms such as resting tremor, dystonia or...


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


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.

Supplementary material

415_2015_7636_MOESM1_ESM.m4v (8.5 mb)
Supplementary material 1 (M4 V 8661 kb)


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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Christoph Kuhm
    • 1
    • 2
  • Constanze Gallenmüller
    • 1
    • 3
  • Thilo Dörk
    • 4
  • Moritz Menzel
    • 5
  • Saskia Biskup
    • 5
  • Thomas Klopstock
    • 1
    • 2
    • 3
    Email author
  1. 1.Department of Neurology, Friedrich-Baur-InstituteLudwig-Maximilians-University MunichMunichGermany
  2. 2.Munich Cluster of Systems Neurology (SyNergy)MunichGermany
  3. 3.German Center for Neurodegenerative Diseases (DZNE)MunichGermany
  4. 4.Gynaecology Research Unit, Clinics of Obstetrics and GynaecologyHannover Medical SchoolHannoverGermany
  5. 5.CeGaT GmbH-Center for Genomics and TranscriptomicsTübingenGermany

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