Ataxia Telangiectasia

Excerpt

Ataxia telangiectasia (A-T), also known as Louis-Bar syndrome, is a rare genetic form of early-onset autosomal recessive ataxia. The clinical picture is characterized by a combination of neurological and systemic symptoms due to the mutation of the ataxia telangiectasia mutated (ATM) gene. In particular, the disease is characterized by cerebellar atrophy with progressive ataxia, cutaneous telangiectasias, a higher incidence of malignancy (particularly lymphoid malignancy), radiosensitivity, immune deficiency, recurrent sinopulmonary infections, and high levels of alpha-fetoprotein in serum.