Epilepsy, Massachusetts General Hospital, Boston, Massachusetts, USA.
Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
Ann Clin Transl Neurol. 2021 Mar;8(3):716-722. doi: 10.1002/acn3.51272. Epub 2021 Jan 26.
We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atrophy, and resolution of hematological abnormalities. Her older brother had a more severe course and only modest response to uridine started at 14 years old. Treatment of this progressive condition via uridine supplementation provides an example of precision diagnosis and treatment using clear outcome measures and biomarkers to monitor efficacy.
我们报告了两例因 CAD 基因的双等位基因突变而导致难治性癫痫、发育倒退和进行性小脑萎缩的兄弟姐妹。对于受影响的女孩，5 岁时开始使用尿苷，显著改善了癫痫控制和发育，停止了小脑萎缩，并解决了血液学异常。她的哥哥病情更严重，14 岁开始使用尿苷治疗，反应仅略有改善。通过尿苷补充治疗这种进行性疾病提供了一个通过明确的结果测量和生物标志物来监测疗效的精准诊断和治疗的例子。
