Gordon-Lipkin Eliza, Fatemi Ali
1 Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA .
2 Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
J Child Neurol. 2018 Nov;33(13):861-868. doi: 10.1177/0883073818792313. Epub 2018 Aug 16.
Leukodystrophies are a heterogeneous class of genetic diseases affecting the white matter in the central nervous system with a broad range of clinical manifestations and a frequently progressive course. An interest in precision medicine has emerged over the last several decades, and biomedical research in leukodystrophies has made exciting advances along this front through therapeutic target discovery and novel disease model systems. In this review, we discuss current and emerging therapeutic approaches in leukodystrophies, including gene therapy, antisense oligonucleotide therapy, CRISPR/CAS-based gene editing, and cell and stem cell based therapies.
脑白质营养不良是一类异质性的遗传性疾病，会影响中枢神经系统的白质，临床表现广泛，病程通常呈进行性。在过去几十年中，人们对精准医学产生了兴趣，脑白质营养不良的生物医学研究通过治疗靶点发现和新型疾病模型系统在这方面取得了令人兴奋的进展。在这篇综述中我们讨论了脑白质营养不良当前和新兴的治疗方法，包括基因治疗、反义寡核苷酸治疗、基于CRISPR/CAS的基因编辑以及细胞和干细胞治疗。
