Skip to main content

Advertisement

Log in

Attenuated presentation of ataxia-telangiectasia with familial cancer history

  • 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.

References

  1. Boder E, Sedgwick RP (1963) Ataxiatelangiectasia. A review of 101 cases. In: Walsh G (ed) Little club clinics in developmental medicine, No. 8. London: Heinemann Medical Books

  2. Busch D (1994) Genetic susceptibility to radiation and chemotherapy injury: diagnosis and management. Int J Radiat Oncol Biol Phys 30:997–1002

    PubMed  CAS  Google Scholar 

  3. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 94:205–215

    PubMed  Google Scholar 

  4. Chun HH, Gatti RA (2004) Ataxiatelangiectasia, an evolving phenotype. DNA Repair (Amst) 3:1187–1196

    Article  PubMed  CAS  Google Scholar 

  5. Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM (1998) ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 62:334–345

    Article  PubMed  CAS  Google Scholar 

  6. Taylor AM, Flude E, Laher B, Stacey M, McKay E, Watt J, Green SH, Harding AE (1987) Variant forms of ataxia telangiectasia. J Med Genet 24:669–677

    Article  PubMed  CAS  Google Scholar 

  7. Willems PJ, Van Roy BC, Kleijer WJ, Van der Kraan M, Martin JJ (1993) Atypical clinical presentation of ataxia telangiectasia. Am J Med Gen 45:777–782

    Article  CAS  Google Scholar 

  8. Ying KL, Decoteau WE (1981) Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alphafetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 4:311–317

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to C. Simonin.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Simonin, C., Devos, D., Vuillaume, I. et al. Attenuated presentation of ataxia-telangiectasia with familial cancer history. J Neurol 255, 1261–1263 (2008). https://doi.org/10.1007/s00415-008-0857-z

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-008-0857-z

Keywords

Navigation