… to malignancies characterize the classical form of AT. … The hallmarks of the cellular
phenotype of AT are increased chromosomal … were well established in adult mutant mice [Citation18]. …

… disorder, presenting with progressive ataxia, immune … truncating mutations and a classical
severe phenotype. The … AT model, with lack of mature gametes and a sexual dimorphism …

… include progressive cerebellar ataxia presenting in infancy, oculomotor … the cellular phenotypes
of ATLD and classical AT are very … In some patients with leukaemia of mature post-thymic …

… to be the most consistent cellular phenotype of AT patients: of … “mild” ATM mutations in our
series presented with G2/GF cell … familiar with the classical AT-phenotype. However, the fact …

… damage further to the mediators of cell cycle arrest, apoptosis, … , puberty, and infrequently
adulthood. It is characterized by … To assess the phenotypic variability of classical AT, a large-…

… ) is usual suggestive of ATX–ATM (ataxia telangiectasia), ATX/HSP–… followed by gene name
presenting ataxia as the main feature… Disease occurs in adulthood, and the phenotype also …

… The patients’ demographics, ATM mutations and overall AFP levels are presented in Table
1… less severe clinical and cellular A–T phenotypes. All our patients had classical A–T disease …

… and other cellular stresses, and targets a wide range of cellular response … presentation of
ataxia-telangiectasia is variable, which in milder cases is due to residual ataxia telangiectasia …

… protein on Western blot have a mild neurologic phenotype. … with AT with abnormal liver
enzymes is presented in Table 2. … Studies in adults suggest that a subgroup of patients with …

… The classically severe form of AT is associated with homozygous … to present with cerebellar
ataxia in late adulthood. In the … had a very mild neurologic phenotype that presented 8 years …