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

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

Abstract 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 CA...

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Bibliographic Details
Main Authors: Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova
Format: Article
Language:English
Published: Wiley 2021-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CADASIL2
cerebral small vessel disease
HTRA1
leukoencephalopathy
stroke
Online Access:https://doi.org/10.1002/mgg3.1799

Internet

https://doi.org/10.1002/mgg3.1799

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