… 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 …

… with adult-onset EP features, with anterior horn cell disease … Patients with AT classically
present with ataxia before the age … If patients presented later in life (eg, in adulthood) but had …

… Here, we review the phenotypes of ataxia telangiectasia, … a mild or atypical presentation
usually have an adult onset. … When ATM kinase is absent, it has a classical presentation; …

… 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 …

… Citation2 There is considerable heterogeneity of disease presentation and progression in …
a more severe disease phenotype termed “classic” AT. Most children and adults with AT have …

… general ataxia and may be misdiagnosed in adults with … Here, we report a patient with
classical AT phenotype, hyper … Ataxia-telangiectasia in a patient presenting with hyper-…

… Therefore, we aimed to investigate ataxiatelangiectasia diagnosis, treatment, and clinical …
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. …

… 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 …

… In the classic presentation of AT, ataxia is often the first … and early adult life so that timely
treatments can be initiated. … This will necessarily change our views on the phenotypic expression …

… illustrate well the various phenotypic presentations of AT and … in young adulthood as their
phenotype was much milder than the … mild axonal polyneuropathy, late-onset anterior horn cell …