School of Clinical Medicine, University of Cambridge, Hills Road, Cambridge, CB2 0SP, UK.
Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 2QQ, UK.
Cerebellum. 2024 Apr;23(2):455-458. doi: 10.1007/s12311-023-01528-2. Epub 2023 Apr 10.
Ataxia-Telangiectasia (A-T) is an autosomal recessive neurodegenerative disease associated with cerebellar ataxia and extrapyramidal features. A-T has a complex and diverse phenotype with varying rates of disease progression. The development of robust natural history studies and therapeutic trials relies on the accurate recording of phenotype using relevant and validated severity of illness indexes. We compared the commonly used Scale for the Assessment and Rating of Ataxia (SARA) and the disease-specific A-T Neurological Examination Scale Toolkit (A-T NEST), in our adult A-T cohort. We found a strong correlation between A-T NEST and the established SARA score, validating the use of A-T NEST and SARA in capturing the natural history of A-T patients.
共济失调毛细血管扩张症（A-T）是一种常染色体隐性神经退行性疾病，与小脑共济失调和锥体外系特征有关。A-T 具有复杂多样的表型，疾病进展速度不一。开发稳健的自然病史研究和治疗试验依赖于使用相关和经过验证的疾病严重程度指数准确记录表型。我们在成人 A-T 队列中比较了常用的共济失调评估量表（SARA）和特定于疾病的 A-T 神经科检查工具包（A-T NEST）。我们发现 A-T NEST 与既定的 SARA 评分之间存在很强的相关性，验证了 A-T NEST 和 SARA 在捕捉 A-T 患者自然病史中的应用。
