Ataxia Telangiectasia

Ataxia Telangiectasia (AT) is a disease that interests many body organs and systems; it is inherited according to a recessive autosome modality or from two healthy parents, carrying the disease character.

What is Ataxia Telangiectasia and how it occurs?

AT is characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, radiosensibility and predisposition to tumours, both in the patients and in their relatives. Ataxia Telangiectasia or Louis-Bar Syndrome is a genetic disease with recessive autosomal transmission characterized by: cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, that predispose to the development of recurrent infections and tumours of the immune system. The disease was described for the first time by Sylaba e Henner in 1926, long before the description of Louis-Bar in 1941, and takes its name from its characteristic signs: the Ataxia, that is the progressive loss of coordination of movements; and the Telangiectasia, the enlargement of small blood vessels.