Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease
Monogenic disease-causing variants are relatively common in Taiwanese patients with SVD, particularly the <i>NOTCH3</i> p.R544C variants. <i>HTRA1</i> variants exhibited similar clinical and imaging features to <i>NOTCH3</i> EGFr 7-34 variants, but without anterior temporal WMH involvement. These findings underscore the importance of genetic screening to understand SVD heterogeneity and guide personalized management.
Authors
- Sung‐Chun Tang (ORCID: https://orcid.org/0000-0003-3731-5973)
- Ming‐Jen Lee (ORCID: https://orcid.org/0000-0001-8732-2448)
- Ya‐Fang Chen (ORCID: https://orcid.org/0000-0003-2995-9189)
- Pei‐Lung Chen (ORCID: https://orcid.org/0000-0002-5640-3074)
- Jiann‐Shing Jeng (ORCID: https://orcid.org/0000-0002-1456-3686)
- Chih‐Hao Chen (ORCID: https://orcid.org/0000-0002-1258-8775)
- Yu‐Wen Cheng (ORCID: https://orcid.org/0000-0002-3054-6333)
Institutions
- National Taiwan University (TW)
- National Taiwan University Hospital (TW)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-04-28
- DOI
- https://doi.org/10.1212/nxg.0000000000200258
- Citations
- 3
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 4.17