Professor Kurt Jellinger is well known for his seminal work on the neuropathology of age-associated neurodegenerative disorders, particularly Lewy body diseases. However, it is less well known that he also contributed important insights into the neuropathological features of several paediatric neurometabolic diseases, including Alpers–Huttenlocher syndrome, a syndrome of mitochondrial disease caused by POLG mutations, and infantile neuroaxonal dystrophy, a phenotype resulting from PLA2G6 mutations. Despite these rare diseases occurring in early life, they share many important pathological overlaps with age-associated Lewy body disease, particularly dysregulation of α-synuclein. In this review, we describe several neurometabolic diseases linked to Lewy body disease mechanisms, and discuss the wider context to pathological overlaps between neurometabolic and Lewy body diseases. In particular, we will focus on how understanding disease mechanisms in neurometabolic disorders with dysregulated α-synuclein may generate insights into predisposing factors for α-synuclein aggregation in idiopathic Lewy body diseases.

Kurt Jellinger 教授因其在与年龄相关的神经退行性疾病，特别是路易体疾病的神经病理学方面的开创性工作而闻名。然而，鲜为人知的是，他还对几种儿科神经代谢疾病的神经病理学特征做出了重要贡献，包括 Alpers-Huttenlocher 综合征（一种由POLG突变引起的线粒体疾病综合征）和婴儿神经轴索营养不良（一种由PLA2G6引起的表型）突变。尽管这些罕见疾病发生在生命早期，但它们与年龄相关的路易体病有许多重要的病理重叠，特别是 α-突触核蛋白的失调。在这篇综述中，我们描述了几种与路易体疾病机制相关的神经代谢疾病，并讨论了神经代谢和路易体疾病之间病理重叠的更广泛背景。特别是，我们将专注于了解神经代谢紊乱与失调的 α-突触核蛋白的疾病机制如何产生对特发性路易体疾病中 α-突触核蛋白聚集的易感因素的见解。