Identification of a Novel NOTCH3 Mutation in a Case of CADASIL Initially Diagnosed as Demyelinating Disease (P3-3.010)
To describe a previously unreported NOTCH3 mutation in a case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), initially misdiagnosed as a demyelinating disease.
Authors
- Anup N. Sonti (ORCID: https://orcid.org/0000-0002-9532-8214)
- John M. Ringman (ORCID: https://orcid.org/0000-0001-5429-0777)
Institutions
- Keck Hospital of USC (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210414
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00