理解遗传学和神经学:成人神经遗传学综述。

IF 0.9 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
Asian Biomedicine Pub Date : 2025-09-02 eCollection Date: 2025-08-01 DOI:10.2478/abm-2025-0022
Pasin Hemachudha, Prakit Anukoolwittaya, Thanakit Pongpitakmetha, Yutthana Joyjinda, Chanida Ruchisrisarod, Abhinbhen W Saraya, Wanakorn Rattanawong, Poosanu Thanapornsungsuth, Thiravat Hemachudha
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引用次数: 0

摘要

神经遗传学研究神经系统疾病的遗传基础。它涵盖了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,到单基因疾病和运动和神经肌肉疾病中的反复扩张障碍,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,为个性化医疗方法铺平了道路,这要归功于它与临床和基因研究的复杂关系。因此,所有的神经科医生,即使在资源有限的情况下,都意识到关键的遗传基础;标准分子诊断技术,如下一代测序、全外显子组和全基因组测序;以及可能的治疗方式。这篇综述还将涉及神经遗传学临床在三级护理中的要素,伦理考虑,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和提高临床结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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

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

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.

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来源期刊
Asian Biomedicine
Asian Biomedicine 医学-医学:研究与实验
CiteScore
1.20
自引率
0.00%
发文量
24
审稿时长
6-12 weeks
期刊介绍: Asian Biomedicine: Research, Reviews and News (ISSN 1905-7415 print; 1875-855X online) is published in one volume (of 6 bimonthly issues) a year since 2007. [...]Asian Biomedicine is an international, general medical and biomedical journal that aims to publish original peer-reviewed contributions dealing with various topics in the biomedical and health sciences from basic experimental to clinical aspects. The work and authorship must be strongly affiliated with a country in Asia, or with specific importance and relevance to the Asian region. The Journal will publish reviews, original experimental studies, observational studies, technical and clinical (case) reports, practice guidelines, historical perspectives of Asian biomedicine, clinicopathological conferences, and commentaries Asian biomedicine is intended for a broad and international audience, primarily those in the health professions including researchers, physician practitioners, basic medical scientists, dentists, educators, administrators, those in the assistive professions, such as nurses, and the many types of allied health professionals in research and health care delivery systems including those in training.
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