ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026
Possible correlation between KRIT1 variant and non-atherosclerotic vasculopathy resulting in ischemic stroke.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo provide the first instance of ischemic stroke attributable to vasculopathy linked to a pathogenic variant in the Krev interaction trapped-1 (KRIT1) gene, which has previously been recognized solely for its involvement in cerebral cavernous malformations (CCMs).
methodsA 23-year-old male patient with acute ischemic stroke and a familial history of early-onset stroke underwent evaluation using cerebral angiography, magnetic resonance imaging (MRI), and clinical exome sequencing. A comprehensive pedigree investigation was conducted, uncovering a history of stroke among several family members, so suggesting a potential inherited risk.
resultsThe patient demonstrated non-atherosclerotic vasculopathy on cerebral angiography. Genetic investigation identified a heterozygous missense variation, c.1867 C> T (p.Thr623Met), in the KRIT1 gene. The variation was also identified in additional impacted family members.
conclusionThis case indicates a new correlation between KRIT1 pathogenic mutations and non-atherosclerotic vasculopathy, broadening the phenotypic spectrum of KRIT1-related disease to encompass ischemic stroke absent classic CCM symptoms.
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