A spectrum of neurological trajectories identified in milder form of ataxia telangiectasia

Takeaway

  • A combined cohort study and literature search identified six salient phenotypic features in patients with mild form of ataxia telangiectasia (A-T).

Why this matters

  • Early detection of the phenotypic abnormalities and trajectories in patients with mild A-T can prevent diagnostic delay and severe multisystem disorder.