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[具有中等数量三核苷酸重复序列的等位基因在帕金森病和其他神经退行性疾病中的作用]

[The role of alleles with an intermediate number of trinucleotide repeats in Parkinson's disease and other neurodegenerative disorders].

作者信息

Nikitina M A, Bragina E Yu, Nazarenko M S, Alifirova V M

机构信息

Siberian State Medical University, Tomsk, Russia.

Research Institute of Medical Genetics of the Tomsk NRMC, Tomsk, Russia.

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 2022;122(7):42-50. doi: 10.17116/jnevro202212207142.

Abstract

Genetic factors underlie the pathological processes that cause the manifestation of a wide range of neurodegenerative diseases. The pathological expansion of unstable trinucleotide repeats is known to lead monogenic neurological diseases such as Huntington's disease, Kennedy's disease, spinocerebellar ataxia, and others. However, the latest data suggests individuals with intermediate allele (IA) repeat length have a risk of developing common neurological phenotype, for example, Parkinson's disease, Alzheimer's disease. In this study, we review the current knowledge on intermediate alleles of gene for pathogenesis and clinical features of neurodegenerative diseases, with the focus on Parkinson's disease. Early diagnosis of neurodegenerative disease and genetic counselling of the family can be improved via the implementation of specific management strategies of IA carriers by team of highly experienced professionals in the fields of neurology and genetics.

摘要

遗传因素是导致多种神经退行性疾病表现的病理过程的基础。已知不稳定三核苷酸重复序列的病理性扩增会导致单基因神经疾病,如亨廷顿舞蹈症、肯尼迪病、脊髓小脑共济失调等。然而,最新数据表明,具有中等等位基因(IA)重复长度的个体有患常见神经表型疾病的风险,例如帕金森病、阿尔茨海默病。在本研究中,我们回顾了关于神经退行性疾病发病机制和临床特征的基因中等位基因的当前知识,重点是帕金森病。通过由神经学和遗传学领域经验丰富的专业人员团队实施针对IA携带者的特定管理策略,可以改善神经退行性疾病的早期诊断和家庭遗传咨询。

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