Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

OBJECTIVES: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by pathogenic variants in the NOTCH3 gene. In Finland, the majority of CADASIL patients carry the pathogenic founder variant c.397C>T, (p.Arg1...

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Detalles Bibliográficos
Autores principales: Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Myllykangas, Liisa, Pöyhönen, Minna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825900/
https://www.ncbi.nlm.nih.gov/pubmed/36086804
http://dx.doi.org/10.1111/ane.13703

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