科凯恩综合征 (CS) B 组 (CSB) 是由产生 CSB 蛋白的切除修复交叉互补组 6 (ERCC6) 基因突变引起的，是一种常染色体隐性遗传疾病，其特征是多种进行性疾病，包括生长障碍、小头畸形、皮肤光敏性和过早衰老。临床资料显示，脑萎缩、脱髓鞘和钙化是CS的主要神经系统表现，并随时间进展。神经元丢失和钙化发生在大脑的各个区域，特别是小脑和基底神经节，导致 CSB 患者出现运动障碍、共济失调和肢体震颤。然而，由于在 CSB 缺陷小鼠中缺乏明显的神经发育和功能异常，对 CS 神经发育缺陷的理解受到限制。在这篇综述中，我们重点阐明CSB的蛋白质结构和分布，并深入研究CSB突变对神经系统发育和功能的影响。此外，我们还概述了有助于探索 CS 疾病的研究模型，并对脑类器官将进一步推动这一领域的重大贡献提供了前瞻性的视角。

Cockayne syndrome (CS) group B (CSB), which results from mutations in the excision repair cross-complementation group 6 (ERCC6) genes, which produce CSB protein, is an autosomal recessive disease characterized by multiple progressive disorders including growth failure, microcephaly, skin photosensitivity, and premature aging. Clinical data show that brain atrophy, demyelination, and calcification are the main neurological manifestations of CS, which progress with time. Neuronal loss and calcification occur in various brain areas, particularly the cerebellum and basal ganglia, resulting in dyskinesia, ataxia, and limb tremors in CSB patients. However, the understanding of neurodevelopmental defects in CS has been constrained by the lack of significant neurodevelopmental and functional abnormalities observed in CSB-deficient mice. In this review, we focus on elucidating the protein structure and distribution of CSB and delve into the impact of CSB mutations on the development and function of the nervous system. In addition, we provide an overview of research models that have been instrumental in exploring CS disorders, with a forward-looking perspective on the substantial contributions that brain organoids are poised to further advance this field.