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A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.

Cerebrovascular diseases (Basel, Switzerland) - 1 Jan 2017

Ibrahimi Muhammad, Nozaki Hiroaki, Lee Angelica, Onodera Osamu, Reichwein Raymond, Wicklund Matthew, El-Ghanem Mohammad

Abstract excerpt

OBJECTIVE: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. METHODS: Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced ("next generation") sequencing technology. The results revealed a homozygous missense mutation as c.616G>A (p.Gly206Arg) in the HTRA1 gene. RESULTS: A 24-year-old man with a history of chronic...

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Source

Identifiers

PMID: 28628911
DOI: 10.1159/000477358

Genes

HTRA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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