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

Karthik MuthusamyAlejandro FerrerEric W KleeKlaas J WierengaRalitza H Gavrilova

Published in: Molecular genetics & genomic medicine (2021)

Clinicoradiologic characteristics of heterozygous HTRA1-related CSVD may overlap with sporadic CSVD. Heterozygous HTRA1 variants can contribute to dominant or recessive disease mechanisms.

Keyphrases

copy number
early onset
mitochondrial dna
late onset
genome wide
intellectual disability
autism spectrum disorder
duchenne muscular dystrophy