X-Linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease affecting individuals with ancestry to the island of Panay in the Philippines. In recent years there has been considerable progress at elucidating the genetic basis of XDP and candidate disease mechanisms in patient-derived cellular models, but the neural substrates that give rise to XDP in vivo are still poorly understood. Previous studies of limited XDP postmortem brain samples have reported a selective dropout of medium spiny neurons within the striatum, although neuroimaging of XDP patients has detected additional abnormalities in multiple brain regions beyond the basal ganglia. Given the need to fully define the CNS structures that are affected in this disease, we created a brain bank in Panay to serve as a tissue resource for detailed studies of XDP-related neuropathology. Here we describe this platform, from donor recruitment and consent to tissue collection, processing, and storage, that was assembled within a predominantly rural region of the Philippines with limited access to medical and laboratory facilities. Thirty-six brains from XDP individuals have been collected over an initial 4 years period. Tissue quality was assessed based on histologic staining of cortex, RNA integrity scores, detection of neuronal transcripts in situ by fluorescent hybridization chain reaction, and western blotting of neuronal and glial proteins. The results indicate that this pipeline preserves tissue integrity to an extent compatible with a range of morphologic, molecular, and biochemical analyses. Thus the algorithms that we developed for working in rural communities may serve as a guide for establishing similar brain banks for other rare diseases in indigenous populations.

X 连锁肌张力障碍-帕金森病 (XDP) 是一种神经退行性疾病，影响具有菲律宾班乃岛血统的个体。近年来，在阐明 XDP 的遗传基础和源自患者的细胞模型中的候选疾病机制方面取得了相当大的进展，但在体内产生 XDP 的神经底物仍然知之甚少。先前对有限 XDP 死后大脑样本的研究报告了纹状体内中等多刺神经元的选择性脱落，尽管 XDP 患者的神经影像学检测到基底神经节以外的多个大脑区域存在其他异常。鉴于需要完全定义受这种疾病影响的 CNS 结构，我们在班乃创建了一个脑库，作为 XDP 相关神经病理学详细研究的组织资源。在这里，我们描述了这个平台，从捐赠者招募和同意到组织收集、处理和存储，它是在菲律宾主要农村地区组装的，对医疗和实验室设施的访问有限。在最初的 4 年时间里，已经收集了来自 XDP 个体的 36 个大脑。根据皮层的组织学染色、RNA 完整性评分、通过荧光杂交链反应原位检测神经元转录物以及神经元和神经胶质蛋白的蛋白质印迹来评估组织质量。结果表明，该管道在与一系列形态学、分子和生化分析相容的程度上保留了组织完整性。