Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

BACKGROUND: Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently, monoallelic variants have been associated with the autosomal dominant disorder CADASIL2 but not all carriers develop disease manifestations. We describe the clinicoradiologic and mutation spectrum of four new CADASIL2 i...

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Detalles Bibliográficos
Autores principales: Muthusamy, Karthik, Ferrer, Alejandro, Klee, Eric W., Wierenga, Klaas J., Gavrilova, Ralitza H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580093/
https://www.ncbi.nlm.nih.gov/pubmed/34510819
http://dx.doi.org/10.1002/mgg3.1799

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580093/
https://www.ncbi.nlm.nih.gov/pubmed/34510819
http://dx.doi.org/10.1002/mgg3.1799

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