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

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

Ataxia‐telangiectasia is an autosomal recessive neurodegenerative disorder that was
initially thought to present exclusively in childhood. With the discovery of the ATM gene, the …

AT is a prototype genome instability syndrome and a multifaceted disease. AT leads to
neurodegeneration− primarily cerebellar atrophy, immunodeficiency, oculocutaneous …

Ataxia telangiectasia (A‐T) is a rare recessively inherited disorder resulting in a progressive
neurological decline. It is caused by biallelic mutation of the ATM gene that encodes a 370 …

Fanconi anaemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS) and
Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders …

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

Abstract Ataxia‐telangiectasia (A‐T) is a multisystem autosomal recessive disease caused
by mutations in the ATM gene and characterized by cerebellar atrophy, progressive ataxia …

ABSTRACT Introduction: Ataxia-telangiectasia (AT) a multisystem disorder primarily
characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer …

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
disorder. A minority of AT patients can present late-onset atypical presentations due to …