Suppr超能文献

由HTT基因中29个CAG重复序列导致的帕金森综合征伴轻微亨廷顿病特征

Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT.

作者信息

Jot Sipilä

机构信息

Department of Neurology, Siun Sote North Karelia Central Hospital, 80120 Joensuu, Finland.

Division of Clinical Neurosciences, Turku University Hospital, 20521 Turku, Finland.

出版信息

Brain Sci. 2019 Sep 22;9(10):245. doi: 10.3390/brainsci9100245.

Abstract

Huntington's disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27-35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG repeat tract (29 repeats), a prominent family history of Parkinson's disease (PD), and a clinical phenotype mostly consistent with PD, but early dystonia and poor levodopa response. Neurophysiological test results were more consistent with Huntington's disease (HD) than PD. It is suggested that the intermediate allele modulated the clinical phenotype of PD in this patient.

摘要

亨廷顿舞蹈症由HTT基因等位基因中至少36个胞嘧啶 - 腺嘌呤 - 鸟嘌呤(CAG)重复序列引起,但中间范围(27 - 35个重复序列)的重复片段也表现出轻微的表型。该患者有一个略长的CAG重复片段(29个重复序列),有显著的帕金森病(PD)家族史,临床表型大多与PD相符,但有早期肌张力障碍且对左旋多巴反应不佳。神经生理学测试结果与亨廷顿舞蹈症(HD)比与PD更相符。提示中间等位基因调节了该患者的PD临床表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/730c/6826852/d184891a8188/brainsci-09-00245-g001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验