Funding agencies: This work was supported by Cancer Research UK and the Ataxia Telangiectasia Society.
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia
Article first published online: 9 NOV 2012
Copyright © 2012 Movement Disorders Society
Volume 28, Issue 4, pages 524–528, April 2013
How to Cite
Worth, P. F., Srinivasan, V., Smith, A., Last, J. I., Wootton, L. L., Biggs, P. M., Davies, N. P., Carney, E. F., Byrd, P. J. and Taylor, A. M. R. (2013), Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. Mov. Disord., 28: 524–528. doi: 10.1002/mds.25236
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 8 APR 2013
- Article first published online: 9 NOV 2012
- Manuscript Accepted: 9 SEP 2012
- Manuscript Revised: 30 AUG 2012
- Manuscript Received: 8 FEB 2012
- ataxia telangiectasia;
The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM protein and increased cellular radiosensitivity. We report an unusual case of A-T in a 41-year-old mother, A-T210, who had very mild neurological symptoms despite complete loss of ATM protein.
A neurological examination was performed, cellular radiosensitivity was assessed, and the ATM gene was sequenced. Skin fibroblasts and a lymphoblastoid cell line (LCL) were assayed for ATM protein expression and kinase activity.
Patient A-T210 showed mild chorea, dystonia, and gait ataxia, walked independently, and drove a car. LCL and skin fibroblasts were radiosensitive and did not express ATM protein. Two ATM-null mutations were identified.
The severe neurodegeneration resulting from loss of ATM can be mitigated in some circumstances. © 2012 Movement Disorder Society