Genetic factors (gene mutations) lead to various rare and prevalent neurological diseases. Identification of underlying mutations in neurodegenerative diseases is of paramount importance due to the heterogeneous nature of the genome and different clinical manifestations. An early and accurate molecular diagnosis are cardinal for neurodegenerative patients to undergo proper therapeutic regimens. The next-generation sequencing (NGS) method examines up to millions of sequences at a time. As a result, the rare molecular diagnoses, previously presented with "unknown causes", are now possible in a short time. This method generates a large amount of data that can be utilized in patient management. Since each person has a unique genome, the NGS has transformed diagnostic and therapeutic strategies into sequencing and individual genomic mapping. However, this method has disadvantages like other diagnostic methods. Therefore, in this review, we aimed to briefly summarize the NGS method and correlated studies to unravel the genetic causes of neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, epilepsy, and MS. Finally, we discuss the NGS challenges and opportunities in neurodegenerative diseases.

中文翻译：

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下一代测序在神经退行性疾病中的应用：机遇与挑战。

遗传因素（基因突变）导致各种罕见和普遍的神经系统疾病。由于基因组的异质性和不同的临床表现，识别神经退行性疾病的潜在突变至关重要。早期和准确的分子诊断对于神经退行性疾病患者接受适当的治疗方案至关重要。下一代测序 (NGS) 方法一次可检查多达数百万个序列。因此，以前以“未知原因”出现的罕见分子诊断现在可以在短时间内实现。该方法生成大量可用于患者管理的数据。由于每个人都有独特的基因组，NGS 已将诊断和治疗策略转变为测序和个体基因组图谱。然而，这种方法与其他诊断方法一样具有缺点。因此，在这篇综述中，我们旨在简要总结 NGS 方法和相关研究，以揭示包括阿尔茨海默病、帕金森病、癫痫和 MS 在内的神经退行性疾病的遗传原因。最后，我们讨论了 NGS 在神经退行性疾病中的挑战和机遇。