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理解遗传学与神经学:成人神经遗传学概述

Understanding the genetics and neurology: an overview of adult neurogenetics.

作者信息

Hemachudha Pasin, Anukoolwittaya Prakit, Pongpitakmetha Thanakit, Joyjinda Yutthana, Ruchisrisarod Chanida, Saraya Abhinbhen W, Rattanawong Wanakorn, Thanapornsungsuth Poosanu, Hemachudha Thiravat

机构信息

Thai Red Cross Emerging Infectious Diseases Health Science Centre, King Chulalongkorn Memorial Hospital-The Thai Red Cross Society, Bangkok 10330, Thailand.

Division of Neurology, Department of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.

出版信息

Asian Biomed (Res Rev News). 2025 Sep 2;19(4):196-208. doi: 10.2478/abm-2025-0022. eCollection 2025 Aug.

Abstract

Neurogenetics investigates the genetic basis of neurological disorders. It encompasses conditions ranging from neurodegenerative diseases with predominantly polygenic risk genes, such as Alzheimer's and Parkinson's, to monogenic diseases and repeated expansion disorders within movement and neuromuscular disorders, such as Friedreich ataxia and muscular dystrophies. Significant advances in recent years that have revolutionized our understanding of disease mechanisms and paved the way for personalized medicine approaches are due to the field of neurogenetics, with its intricate relationship both with clinical and genetic research. Therefore, all neurologists, even in resource-limited settings, are aware of the critical genetic basis; standard molecular diagnostic techniques such as next-generation sequencing, whole exome, and whole genome sequencing; and possible therapeutic modalities of their field. This review will also touch on elements of the neurogenetic clinic in tertiary care, ethical considerations, and insight into ongoing research that would help improve patient care and enhance clinical outcomes.

摘要

神经遗传学研究神经系统疾病的遗传基础。它涵盖了多种病症,从主要具有多基因风险基因的神经退行性疾病,如阿尔茨海默病和帕金森病,到单基因疾病以及运动和神经肌肉疾病中的重复扩增疾病,如弗里德赖希共济失调和肌肉萎缩症。近年来,神经遗传学领域取得了重大进展,彻底改变了我们对疾病机制的理解,并为个性化医疗方法铺平了道路,这一领域与临床研究和基因研究都有着复杂的关系。因此,所有神经科医生,即使是在资源有限的环境中,也都了解关键的遗传基础、标准分子诊断技术,如下一代测序、全外显子组测序和全基因组测序,以及他们所在领域可能的治疗方式。本综述还将涉及三级医疗中的神经遗传学诊所要素、伦理考量,以及对正在进行的研究的见解,这些研究将有助于改善患者护理并提高临床疗效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e225/12404658/dbee89a055c5/j_abm-2025-0022_fig_001.jpg

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