A journey through the history of Neurogenetics

ABSTRACT Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era. The term Neurogenetics came to integrate two large sciences and clinical practices: Neurology and Genetics. Neurogenetics is the emerging field that studies the correlation between genetic code and the development and function of the nervous system, including behavioral traits, personality and neurological diseases. In this historical note, a timeline shows the main events and contributors since the first reports of neurogenetic diseases until the current days. In the recent years, neurologists are experiencing much broader use of new genetic diagnosis techniques in clinical practice. Thus, new challenges are arising in diagnostic approach, ethical considerations, and therapeutic options. This article aims to summarize the main historical hallmarks of Neurogenetics, from the pre-DNA era to the present, and the future directions of the field.

摘要 19世纪末，首批遗传性神经疾病被系统报道后，在遗传学尚未成型的前基因时代，已有多位学者对神经病学与遗传学之间的紧密关联进行了详实的文献记载与论证。“神经遗传学（Neurogenetics）”这一术语整合了神经病学与遗传学两大科学领域及临床实践体系。作为一门新兴交叉学科，神经遗传学主要研究遗传密码与神经系统发育、功能之间的内在关联，研究范畴涵盖行为特征、人格特质及各类神经疾病。在本篇历史述评中，我们将通过时间轴梳理自首例神经遗传性疾病报告发布以来，直至当代的关键事件与核心贡献者。近年来，神经科医师在临床实践中对新型遗传学诊断技术的应用愈发广泛，由此在诊断路径、伦理考量及治疗方案选择等维度催生了诸多全新挑战。本文旨在系统总结从DNA时代之前直至当下的神经遗传学主要历史里程碑，并展望该领域的未来发展方向。