Department of Neuroscience and Mental Health, Neurology, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
J Neurochem. 2020 Mar;152(5):515-522. doi: 10.1111/jnc.14902. Epub 2019 Dec 8.
Genetic forms represent a small fraction of Parkinson's disease (PD) but their discovery has revolutionized research in the field, putting α-synuclein in the spotlight, and uncovering other key neuropathological mechanisms of the disease. The question of whether genetic and idiopathic PD (iPD) correspond to a same disease entity is not simply philosophical, has implications for the discovery of the biological background of PD and for the development of novel therapeutic strategies that may also be applicable to the larger iPD group. Here, we review the current landscape of what has been labeled genetic PD and critically discuss the rational for merging or separating genetic and idiopathic forms of PD as the same or different disease entities. We conclude by addressing the potential implications for future research.
遗传形式仅占帕金森病（PD）的一小部分，但它们的发现彻底改变了该领域的研究，使α-突触核蛋白成为焦点，并揭示了该疾病的其他关键神经病理学机制。遗传 PD 和特发性 PD（iPD）是否对应于同一疾病实体的问题不仅具有哲学意义，还对 PD 生物学背景的发现以及新的治疗策略的发展具有影响，而这些策略也可能适用于更大的 iPD 群体。在这里，我们回顾了当前被标记为遗传 PD 的研究现状，并批判性地讨论了将遗传和特发性 PD 形式合并或分离为同一或不同疾病实体的合理性。最后，我们讨论了对未来研究的潜在影响。
