What is the pathophysiology of ataxia-telangiectasia?

Updated: Jul 28, 2020
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
  • Print

Ataxia-telangiectasia mainly is due to a defect in a DNA processing or repair protein. The cerebellar and extrapyramidal systems are the most severely affected. This syndrome is characterized by a severe loss of Purkinje cells and, to a lesser degree, the basket and granular cells of the cerebellar cortex. Other pathological changes include cerebellar cortical atrophy, diffuse fibrillary gliosis, and degeneration of the anterior horn cells of the spinal cord. Studies have revealed reduced levels of cerebellar neurotransmitters, including phosphoethanolamine, gamma-aminobutyric acid (GABA), and glutamic acid.

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!