Abstract
Ataxia Telangiectasia (A-T) is a rare autosomal recessive disorder associated with early onset cerebellar neurodegeneration, respiratory disease, immunodeficiency, radiosensitivity and cancer predisposition. Severe (“classic”) and milder (“variant”) forms of the disease exist, depending on whether the mutation in the A-T Mutated (ATM) gene results in complete absence or reduced levels of functioning ATM protein, respectively. Onset of neurological features in classic A-T usually occurs in the preschool years. While cerebellar ataxia is usually present, other extrapyramidal motor features are sometimes dominant. Eye movements are universally affected, and speech, swallowing, and motor power are usually affected as the disease progresses during childhood. A number of therapeutic options are currently being tested, with early promising results warranting larger trials.
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Dineen, R.A., Whitehouse, W.P. (2023). Ataxia Telangiectasia. In: Gruol, D.L., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J.D., Shen, Y. (eds) Essentials of Cerebellum and Cerebellar Disorders. Springer, Cham. https://doi.org/10.1007/978-3-031-15070-8_93
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