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

ConclusionsClinicoradiologic characteristics of heterozygousHTRA1-related CSVD may overlap with sporadic CSVD. HeterozygousHTRA1 variants can contribute to dominant or recessive disease mechanisms.

Source: Molecular Genetics & Genomic Medicine - September 12, 2021 Category: Genetics & Stem Cells Authors: Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova Tags: CLINICAL REPORT Source Type: research