A developmental component to Huntington's disease

IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Revue neurologique Pub Date : 2024-05-01 DOI:10.1016/j.neurol.2024.04.001
L. Ratié , S. Humbert
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Abstract

Huntington's disease is a dominantly inherited disorder characterized by the dysfunction and death of cortical and striatal neurons. Striatal degeneration in Huntington's disease is due, at least in part, to defective cortical signalling to the striatum. Although Huntington's disease generally manifests at the adult stage, mouse and neuroimaging studies of presymptomatic mutation carriers suggest that it may affect neurodevelopment. In support of this notion, the development of the cortex is altered in mice with Huntington's disease and the foetuses of human Huntington's disease gene carriers. We will discuss these studies and the contribution of abnormal brain development to the later appearance of the disease.

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亨廷顿氏病的发育因素。
亨廷顿氏病是一种显性遗传性疾病,以大脑皮层和纹状体神经元的功能障碍和死亡为特征。亨廷顿病的纹状体变性至少部分是由于大脑皮层向纹状体发出的信号缺陷所致。虽然亨廷顿氏病通常在成年阶段才会显现,但对无症状突变携带者进行的小鼠和神经影像学研究表明,该病可能会影响神经发育。为支持这一观点,亨廷顿氏病小鼠和人类亨廷顿氏病基因携带者胎儿的大脑皮层发育发生了改变。我们将讨论这些研究以及大脑发育异常对疾病后期出现的影响。
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来源期刊
Revue neurologique
Revue neurologique 医学-临床神经学
CiteScore
4.80
自引率
0.00%
发文量
598
审稿时长
55 days
期刊介绍: The first issue of the Revue Neurologique, featuring an original article by Jean-Martin Charcot, was published on February 28th, 1893. Six years later, the French Society of Neurology (SFN) adopted this journal as its official publication in the year of its foundation, 1899. The Revue Neurologique was published throughout the 20th century without interruption and is indexed in all international databases (including Current Contents, Pubmed, Scopus). Ten annual issues provide original peer-reviewed clinical and research articles, and review articles giving up-to-date insights in all areas of neurology. The Revue Neurologique also publishes guidelines and recommendations. The Revue Neurologique publishes original articles, brief reports, general reviews, editorials, and letters to the editor as well as correspondence concerning articles previously published in the journal in the correspondence column.
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