Last edited on June 18, 2014 by Timothy C. Hain, MD, Chicago IL.
Ataxia-telangiectasia is an autosomal recessive multisystem disease. It is characterized by degeneration of the cerebellum and oculocutaneous telangiectasia.
Other features include a variable immunodeficiency, endocrinopathy, respiratory failure, a high risk for malignancy, increased serum alpha-fetoprotein levels, radiosensitivity, and chromosomal instability.
Most persons with AT are unsteady when they first start to walk, and become wheelchair bound at approximately the age of 10. Oculomotor apraxia, with characteristic head thrusts, are common in AT. In most persons, death occurs in the third decade of life due to malignacy or respiratory failure.
There are rare variants of AT in whom features are milder and survival is longer. (MMM Verhagen et al, 2009). In the variant form, the ocular telangiectasia are milder or absent, and basal ganglia findings predominate over cerebellar signs.
Recently it has been reported that 4-AP may be helpful.
MMM Verhagen and many others. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009;73:430-437