A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
January 2025
in “
Turkish Journal of Cerebrovascular Diseases
”
Studysummary This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
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This study reports on a new CARASIL family with two consanguineous patients who have the homozygous c.235C>T (p.Q79*) mutation in the HTRA1 gene. Despite sharing the same genetic mutation, the patients exhibited different clinical symptoms and neuroimaging results. Notably, one patient experienced epileptic seizures and multiple recurrent lobar hemorrhages, a novel characteristic not previously associated with CARASIL. This finding suggests variability in clinical manifestations even among patients with identical mutations, highlighting the complexity of genotype-phenotype correlations in CARASIL.
