Background The major clinical feature of ataxia telangiectasia (A‐T) is severe progressive
neurodegeneration with onset in infancy. This classical A‐T phenotype is caused by biallelic …

Since the online publication of our article1, two relevant reports have been published that
merit mention. In one, a 27 year old woman with a past history of recurrent infections and …

A 14-year-old female of Canadian Old Colony Mennonite ancestry, product of non-
consanguineous union, with normal perinatal history and mild motor developmental delay …

Discussion Typical AT is associated with ataxia and telangiectasias, immunodeficiency
(mainly lower Ig levels or lymphopenia), frequent pulmonary infections, increased sensitivity …

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 …

Discussion AT is a multisystem condition characterized by progressive neurodegeneration
and oculocutaneous telangiectasias. Other manifestations include cellular and humoral …

Background Ataxia telangiectasia is one of the most common causes of autosomal recessive
cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha‐fetoprotein …

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused
by mutations in the ATM gene with progressive neurological dysfunction, multisystem …

Ataxia-telangiectasia (AT) is an autosomal recessive inherited disease with a prevalence of
1: 40.000–1: 100.000 which is characterized by progressive childhood-onset cerebellar …

The past 25 years have seen enormous progress in the deciphering of the genetic and
molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The …