Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia—with some preserved ataxia telangiectasia-mutated (ATM) kinase activity—have a milder and often atypical phenotype, which can lead to long delays in diagnosis. Clinicians need to be aware of the spectrum of clinical presentations of ataxia telangiectasia, especially given the implications for malignancy surveillance and management. Here, we review the phenotypes of ataxia telangiectasia, illustrated with case reports and videos, and discuss its pathological mechanisms, diagnosis and management.

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共济失调毛细血管扩张症：神经科医生需要知道什么

共济失调毛细血管扩张症是一种常染色体隐性 DNA 修复障碍，其特征是复杂的神经系统症状，恶性肿瘤、免疫缺陷和其他全身并发症的风险升高。患有变异性共济失调毛细血管扩张症的患者——具有一些保留的共济失调毛细血管扩张症 (ATM) 激酶活性——具有较温和且通常不典型的表型，这可能导致诊断的长时间延迟。临床医生需要了解共济失调毛细血管扩张症的临床表现范围，特别是考虑到对恶性肿瘤监测和管理的影响。在这里，我们回顾共济失调毛细血管扩张症的表型，通过病例报告和视频进行说明，并讨论其病理机制、诊断和管理。