Batten disease is a family of rare, lysosomal disorders caused by mutations in one of at least 13 genes, which encode a diverse set of lysosomal and extralysosomal proteins. Despite decades of research, the development of effective therapies has remained intractable. But now, the field is experiencing rapid, unprecedented progress on multiple fronts. New tools are providing insights into previously unsolvable problems, with molecular functions now known for nine Batten disease proteins. Protein interactome data are uncovering potential functional overlap between several Batten disease proteins, providing long-sought links between seemingly disparate proteins. Understanding of cellular etiology is elucidating contributions from and interactions between various CNS cell types. Collectively, this explosion in insight is hastening an unparalleled period of therapeutic breakthroughs, with multiple therapies showing great promise in preclinical and clinical studies. The coming years will provide a continuation of this rapid progress, with the promise of effective treatments giving patients hope.

巴顿病是一个罕见的溶酶体疾病家族，由至少 13 个基因之一的突变引起，这些基因编码一组不同的溶酶体和溶酶体外蛋白。尽管进行了数十年的研究，但有效疗法的开发仍然很棘手。但现在，该领域在多个方面正在经历快速、前所未有的进步。新工具正在提供对以前无法解决的问题的见解，现在已知九种巴顿病蛋白的分子功能。蛋白质相互作用组数据揭示了几种巴顿病蛋白质之间潜在的功能重叠，提供了看似不同的蛋白质之间长期寻求的联系。对细胞病因学的理解正在阐明各种 CNS 细胞类型的贡献和相互作用。集体，这种洞察力的爆发正在加速一个无与伦比的治疗突破时期，多种疗法在临床前和临床研究中显示出巨大的前景。未来几年将延续这一快速进展，并有望提供有效的治疗方法，为患者带来希望。