AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.

I Taglia,I Di Donato, S Bianchi,A Cerase,L Monti,R Marconi,A Orrico,A Rufa,A Federico,M T Dotti

Acta neurologica Scandinavica（2018）

引用 20|浏览41

暂无评分

摘要

We recommend screening for mutations in AARS2 gene in CSF1R-negative patients, also in the absence of a clear family history and peculiar MRI findings. Our results also suggest that findings of conventional MRI and MR spectroscopy may be useful in prompting the genetic screening.

查看译文

关键词

AARS2,CSF1R,leukodystrophy,leukoencephalopathy,ovario-leukodystrophy,white matter disease

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要