What is ataxia-telangiectasia?

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

Ataxia-telangiectasia (AT) is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and recurrent respiratory and sinus infections. [1]

The first case described in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia reported in 1941 by Madame Louis-Bar. Initially known as the Louis-Bar syndrome, the term ataxia-telangiectasia was introduced in 1958 by Boder et al, who recorded the clinical features and recognized the familial incidence proposing an autosomal recessive mode of inheritance for the disease. [2] The disease is sometimes referred to as Boder-Sedgwick syndrome.

Progressive cerebellar ataxia usually becomes clinically apparent when the child begins to walk. The ataxia affects station, gait, and intention. Telangiectasia of the bulbar conjunctiva first appears at age 3-7 years and, subsequently, involves the malar areas, palate, ears, and antecubital and popliteal spaces. Other features of this syndrome include retardation of growth, dysarthric speech, dry coarse hair and skin, and mental retardation after age 10 years. The complete syndrome includes hypoplasia of the thymus associated with defective T-cell function and decreased levels of circulating immunoglobulin. Recurrent respiratory tract and sinus infections are common, frequently causing death in adolescence or young adulthood. A high incidence of malignancies, particularly leukemia and Hodgkin lymphoma, occurs.

Ataxia-telangiectasia combines central nervous system disease with an oculocutaneous anomaly, fulfilling the criteria for classification within the phakomatoses group of diseases.


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