Spatial and Temporal Distribution of White Matter Lesions in NOTCH2NLC-Related Neuronal Intranuclear Inclusion Disease
Our analysis revealed the radiologic characteristics and spatial distribution of WMLs and demonstrated significant correlations between FLAIR hyperintensity volume and age/cognitive levels in NIID. Long-term retrospection revealed 3 types of gradual WML expansion patterns while MELAS-like episodes cause rapid WML aggravation. Although results should be confirmed in a larger cohort, these insights enhance understanding of NIID's clinical-radiologic relationships and pathogenesis.
Authors
- Yangye Lian
- Ying Liu (ORCID: https://orcid.org/0000-0003-1699-9309)
- Yuwen Zhang (ORCID: https://orcid.org/0009-0002-8419-0595)
- Jing Ding (ORCID: https://orcid.org/0000-0001-5135-4210)
- Beini Fei (ORCID: https://orcid.org/0000-0001-9511-8172)
- Xin Wang (ORCID: https://orcid.org/0000-0002-7051-0773)
- Jianying Liu (ORCID: https://orcid.org/0009-0006-2040-1188)
- Shaoping Zhong (ORCID: https://orcid.org/0000-0003-4133-1159)
- Jingzhen Liang
- Jing Wang (ORCID: https://orcid.org/0000-0002-3793-3264)
Institutions
- Sun Yat-sen University (CN)
- Chinese Academy of Sciences (CN)
- Fudan University (CN)
- Center for Excellence in Brain Science and Intelligence Technology (CN)
- Zhongshan Hospital (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- State Key Laboratory of Medical Neurobiology
Publication Details
- Journal
- Neurology
- Published
- 2025-02-03
- DOI
- https://doi.org/10.1212/wnl.0000000000213360
- Citations
- 10
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 13.89