… with a focus on clinical presentation, presence of movement … , particularly adults, chorea
and dystonia are the most … clinical phenotypes, such as the absence of mild neurological …

… have a milder clinical phenotype and a longer lifespan compared to classical AT patients [11],
[… In the variant group, all five cancers developed in adulthood and four patients died of their …

… as the presenting features of variant ataxia-telangiectasia.… mild clinical phenotype but
absent ATM protein.Insulin resistance is reported in adult patients with classic ataxia-telangiectasia.…

… The pleiotropic nature of the clinical and cellular phenotype … Ataxia is the presenting symptom
in this syndrome and is … to the most distant loci to generate the IgA and IgE mature genes (…

… agents, and a cellular phenotype that reflects the missing DDR … The AT phenotype should
be viewed in light of this belated … The classical AT phenotype is caused by homozygosity or …

… features that characterize its classical phenotype, namely a … Louis Bar presented the second
patient in international … controls many different, often critical cellular pathways and is as such …

… 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 …

… for most atypical presentations. The smallest symptomatic non-interrupted GAA1 expansion
so … -terminal domain of frataxin may also result in an atypically mild FRDA phenotype (Bidi- …

… Ataxia, generally the presenting symptom in this syndrome, … in premature double-positive
mature T lymphocytes, greatly … indeed responsible for the AT cellular phenotype. Thus, ectopic …

… Our patient presented with mild dystonia, moderately dysarthric speech, increased serum
α-… The negative control is cell lysate from a classical AT patient (RN) shown in lanes 3 and 4. …