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帕金森病的临床基因检测。

Genetic testing for Parkinson's disease in clinical practice.

机构信息

, Tübingen, Germany.

出版信息

J Neural Transm (Vienna). 2023 Jun;130(6):777-782. doi: 10.1007/s00702-023-02612-x. Epub 2023 Mar 16.

Abstract

The identification of disease-causing mutations or strong risk factors for Parkinson's disease in genes encoding proteins such as α-synuclein (SNCA), leucine-rich repeat kinase-2 (LRRK2), or glucocerebrosidase (GBA1) has led to a better understanding of the different components of disease pathogenesis. Many gene and mutation-specific targeted disease-modifying treatments are under development and several studies are under way. It is, therefore, important to raise awareness among patients and their families and to offer genetic testing, at least to those patients who are considering to participate in innovative trials.

摘要

对编码蛋白质的基因(如α-突触核蛋白(SNCA)、富含亮氨酸重复激酶 2(LRRK2)或葡萄糖脑苷脂酶(GBA1))中导致帕金森病的致病突变或强风险因素的鉴定,使人们对疾病发病机制的不同组成部分有了更好的理解。许多针对基因和突变的靶向疾病修饰治疗正在开发中,并且正在进行几项研究。因此,提高患者及其家属的认识并提供基因检测非常重要,至少应提供给那些考虑参加创新试验的患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c7b/10199829/1c46105523dc/702_2023_2612_Fig1_HTML.jpg

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