First case of adult-onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual.

Iulian V Podar,Daniel A P Gutmann,Florian Harmuth,Tobias B Haack,Stephan Ossowski,Holger Hengel,Antje Bornemann,Ludger Schöls,Oliver Neuhaus

European journal of neurology（2023）

引用 1|浏览8

暂无评分

摘要

Our case proves adult-onset NOTCH2NLC-GGC-positive NIID with typical findings on MRI imaging and histology in a Caucasian patient and underscores the need to consider this diagnosis in non-Asian individuals as well.

查看译文

关键词

neurogenetics, neuronal intranuclear inclusion disease, neuroradiology

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