Ataxia‐telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized
by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive …

The first description of patients with ataxia–telangiectasia (AT) was published in French in
1926 by the internist Ladislav Syllaba and the neurologist Kamil Henner (Syllaba and …

Definition of the disease Ataxia telangiectasia (AT) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency …

Ataxia telangiectasia (AT) is a rare autosomal recessive disease caused by mutations in the
ataxia telangiectasia mutated (ATM) gene. In the absence of a family history, the diagnosis …

Introduction Ataxia-telangiectasia (AT) is a rare autosomal recessive syndrome
characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable …

Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children
with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular …

The unique combination of phenotypic manifestations seen in ataxia telangiectasia (AT) has
intrigued neurologists, oncologists, radiation biologists and immunologists for several …

Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by
a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations …

Ataxia telangiectasia is a rare, multiorgan neurodegenerative disorder with enhanced
vulnerability to cancer and infection. Median survival in two large cohorts of patients with this …

Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …