揭示肾上腺脑白质营养不良在小脑性共济失调队列中的存在

资源简介

揭示肾上腺脑白质营养不良在小脑性共济失调队列中的存在

【数据集背景】

本数据集源站标题为《Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia》。配套论文《Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia》发表于 PLOS ONE（2017），DOI：10.1371/journal.pone.0177296。源站首次发布：2017-05-08。

【数据内容】

源站原始描述：Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categori…

【数据结构与技术规格】

文件数 2 个，合计 41.71 KB。S1 Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，12.88 KB。S2 Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，28.83 KB。数据集 DOI：10.1371/journal.pone.0177296。

【主题与分类】

源站学科分类：Biochemistry、Microbiology、Genetics、Neuroscience、Environmental Sciences not elsewhere classified、Chemical Sciences not elsewhere classified。主题标签：corticospinal tracts、MRI、adult-onset cerebellar ataxias、AVALD、adult-onset cerebellar ataxia、ABCD 1 mutations、middle cerebellar peduncles、108L、cerebellar hemispheres、ALD accounts。

【适用方向】

源站学科分类标注为 Biochemistry、Microbiology、Genetics、Neuroscience、Environmental Sciences not elsewhere classified、Chemical Sciences not elsewhere classified。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/Unmasking_adrenoleukodystrophy_in_a_cohort_of_cerebellar_ataxia/4984736

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Chen, Ying-Hao; Lee, Yi-Chung; Tsai, Yu-Shuen; Guo, Yuh-Cherng; Hsiao, Cheng-Tsung; Tsai, Pei-Chien; et al. (2017). Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-05-31，引用时请注意版本时效。