… and non-AT clinical presentation in patient A-T210 is an important … cellular radiosensitivity
(typical of classical AT) and the unusual neurological phenotype with very mild gait ataxia. …

… Patients with AT classically present with an ataxic gait at the … a possible genotype–phenotype
relationship for mutations in … extrapyramidal symptoms: most patients presented with chorea…

… ataxia telangiectasia mutated (ATM) gene, which encodes the ATM kinase protein. Patients
with AT classically present with ataxia … If patients presented later in life (eg, in adulthood) but …

… Among our 14 patients, the presenting feature was ataxia in 10 … , typical ataxia-telangiectasia
(AT), and adult AT cell lines are … In patients with classical AT phenotypes and patients with …

… to combine “classical” and “variant” phenotypes into a spectrum … including adult patients10
or “variant Ataxia-telangiectasia”9 (… and presented with gait ataxia at 6 years in one and mild …

… results in a much milder clinical phenotype, neurologically, … in presentation in this group of
AT patients with the ‘classical’ … of them are not diagnosed until adulthood, even into the 7th …

… In fact, cerebellar ataxia is the most common pediatric presentation … are the main diagnostic
criteria of AT, some adult cases … Life expectancy is lower among patients with classical form …

… patients with a milder and different presentation may not be … of clinical phenotype and
genetics Ataxia telangiectasia is a … form, two subgroups of distinguishable adult onset (early and …

… Comparison of the clinical and cellular phenotypes of … of ataxia being delayed until teenage
or even early adulthood… as severe as classical AT. The reason for the different clinical …

… with milder phenotype or atypical form of classical symptoms … % of variant patients
presented HIgM phenotype, as all were … from malignancies presented mostly in adulthood with …