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Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia


Lavin, MF and Guven, N and Bottle, S and Gatti, RA, Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia, British Medical Bulletin, 81-82, (1) pp. 129-147. ISSN 0007-1420 (2007) [Substantial Review]

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Copyright 2007 The Author

DOI: doi:10.1093/bmb/ldm012


Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, a high risk of cancer and immunodeficiency. These patients are also hypersensitive to radiotherapy. The gene product defective in this syndrome, ATM (ataxia-telangiectasia mutated), normally recognizes DNA damage and signal to the DNA repair machinery and the cell cycle checkpoints to minimize the risk of genetic damage. No curative strategy for this disease exists. Treatment has focused on slowing the progress of the neurodegeneration; devising approaches for the treatment of tumours while minimizing side effects and treatment with immunoglobulin for the immunodeficiency. The most debilitating feature of this disorder is the progressive neurodegeneration due to loss of Purkinje cells in the cerebellum and malfunction of other neuronal cells. Correcting for the loss of Purkinje cells is technically very difficult and would require transplantation of embryonic stem cells. However, since it seems likely that oxidative stress may contribute to the neurodegeneration in A-T, potential therapies based on the use of antioxidants offer some hope. We describe the natural course of disease, some supportive therapeutic approaches already in use and those with potential based on our knowledge of molecular and cellular characteristics of this disorder.

Item Details

Item Type:Substantial Review
Keywords:ataxia-telangiectasia, treatment of
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Guven, N (Dr Nuri Guven)
ID Code:79293
Year Published:2007
Web of Science® Times Cited:95
Deposited By:Pharmacy
Deposited On:2012-08-29
Last Modified:2019-02-13

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