A Tale of Two Brothers: Two Cases of Symptomatic Heterozygous HTRA1 Mutations (P8-14.014)
Here, we describe the case of two brothers with symptomatic HTRA1 heterozygous mutations who presented with multi-territory infarcts, confluent white matter disease and hydrocephalus. To our knowledge, the literature to date contains only one case of a heterozygous HTRA1 mutation with hydrocephalus.
Authors
- Benjamin N. Sacks (ORCID: https://orcid.org/0000-0003-0143-6589)
- Bal Athwal
Institutions
- Royal Free London NHS Foundation Trust (GB)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000212250
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00