… all patients with the classic and the variant phenotype. … in Ataxia Telangiectasia, this is
not described in the literature. … , complemented with telangiectasias in adulthood to extend …

Ataxia-telangiectasia … ataxia-telangiectasia. We used a three-axis accelerometer to
assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia …

… Nearly all patients had classical AT presentation except for … novel variants and had milder
phenotype, is presented below: … In our cohort, T-cell acute lymphoblastic leukemia was …

… with a variant phenotype lacking marked cerebellar ataxia, but … The patients presented with
a resting tremor at young adult … why they were so different from classical AT patients. Time …

… with a classical earlier-onset phenotypic presentation with its … One adult patient had
improvement in his gait ataxia with … abnormalities in milder phenotypes of ataxia telangiectasia. …

… children with classical AT phenotype and … presented as lymphoreticular malignancies at
a younger age. However, patients who survive into adulthood (usually patients with a milder …

… exhibit the classical phenotype of AT syndrome. The classic clinical presentation can also …
Mechanical ventilation became necessary after the patient developed an adult-type respiratory …

… of ATM in cellular homeostasis and relate these functions to the complex AT phenotype. …
The mechanism is not understood but does not appear to be due to a classical dominant …

… cases of ataxia telangiectasia with milder phenotypes have … This mutation has very diverse
clinical presentations, … Gluten ataxia is characterized by progressive adult-onset gait ataxia …

… these clinical and cellular features are considered common to all “classical” AT … phenotypes
that vary from the severe early-onset classical disease to an adult-onset disorder with milder …