five

Supplementary Material for: A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

收藏
DataCite Commons2020-10-02 更新2024-07-28 收录
下载链接:
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_A_Pyramidal_Cause_of_a_Cerebellar_Ataxia_HSP-7/13041908
下载链接
链接失效反馈
官方服务:
资源简介:
A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.
提供机构:
Karger Publishers
创建时间:
2020-10-02
5,000+
优质数据集
54 个
任务类型
进入经典数据集
二维码
社区交流群

面向社区/商业的数据集话题

二维码
科研交流群

面向高校/科研机构的开源数据集话题

数据驱动未来

携手共赢发展

商业合作