当前位置: X-MOL 学术Ann. Clin. Transl. Neur. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2019-12-18 , DOI: 10.1002/acn3.50966
Gilles Naeije 1, 2 , Vincent Wens 1, 3 , Nicolas Coquelet 1 , Martin Sjøgård 1 , Serge Goldman 1, 3 , Massimo Pandolfo 2 , Xavier P De Tiège 1, 3
Affiliation  

Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism. Here, we used magnetoencephalography (MEG) to characterize the main determinants of FRDA‐related changes in intrinsic functional brain architecture.

中文翻译:

发病年龄决定了弗里德赖希共济失调的内在功能性大脑结构。

Friedreich共济失调(FRDA)是高加索人中最常见的遗传性共济失调。大多数患者在与线粒体铁代谢有关的frataxin(FXN)基因的第一个内含子中具有扩展的GAA三联体重复序列的纯合子。在这里,我们使用了脑磁图(MEG)来表征内在功能性大脑结构中FRDA相关变化的主要决定因素。
更新日期:2019-12-18
down
wechat
bug