Objective To describe and classify the neurologic trajectories in patients with mild neurologic
forms of ataxia telangiectasia (AT) from the Dutch AT cohort, combined with patients …

Objective: To assess the clinical spectrum of ataxia-telangiectasia (AT) in adults, with a focus
on movement disorders. Methods: A total of 14 consecutive adults with AT were included at …

Objective Variant ataxia‐telangiectasia is caused by mutations that allow some retained
ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features …

Background: Ataxia telangiectasia (AT) is a rare disorder with many distinctive neurologic
features. Although there is substantial individual variation in the rate of progression of these …

Ataxia-Telangiectasia (AT) is a neurodegenerative disease caused by bi-allelic mutations in
the Ataxia-Telangiectasia-Mutated (ATM) gene. Complete lack of ATM activity leads to …

Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive
multisystemic neurodegenerative disease. Variant AT phenotypes have been described in …

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused
by mutations in the ATM gene with progressive neurological dysfunction, multisystem …

Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

Objective Patients with classic ataxia–telangiectasia (A–T) generally die in the second or
third decade of life. Clinical descriptions of A–T tend to focus on the symptoms at …

Objective: To describe the phenotype of adult patients with variant and classic ataxia-
telangiectasia (AT), to raise the degree of clinical suspicion for the diagnosis variant AT, and …