Ataxia-telangiectasia (A-T), also called Louis-Bar syndrome, is a rare genetic disease. It affects multiple systems. Individuals with A-T usually die by their early 20s. Nervous system abnormalities become apparent by age two, and muscle control...

Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome[1] or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman,...

Background: Ataxia-telangiectasia (A-T) is a neurologic disorder caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. A clinical diagnosis of A-T is confirmed by radiosensitivity testing and immunoblotting for ATM protein. Because both of these tests have long turnaround times (≥3 months), we developed...

Ataxia-telangiectasia (A-T) is a rare multisystem disorder. Most affected individuals require the use of a wheelchair during late childhood or adolescence and survive only to early adulthood.[1 ] The main features of A-T are progressive cerebellar ataxia, oculocutaneous telangiectasias and chronic sinopulmonary infections.[2 ],[3...