ArticleEuropean journal of neurology2026
Risk of Clinical Events in Presymptomatic Familial Cerebral Cavernous Malformations.
Article in European journal of neurology, 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
background and purposeFamilial cerebral cavernous malformations (fCCM) may cause focal neurological deficits (FND) due to hemorrhagic or non-hemorrhagic events and epileptic seizures (ES). With the widespread use of magnetic resonance imaging (MRI) and genetic testing, diagnosis is now frequently established at a presymptomatic stage, before any clinical manifestation. However, the subsequent risk of a first clinical event in these individuals remains poorly defined.
methodsWe conducted a cohort-based analysis of retrospectively collected longitudinal data from 79 patients with fCCM who were asymptomatic at diagnosis (median age, 41.7 years) and managed in a national referral center.
resultsOver 649.6 patient-years (median follow-up, 4.0 years), 23 patients (29%) experienced a first clinical event. Post-diagnostic event-free survival was approximately 97% at 1 year, 79% at 5 years, and 69% at 10 years. Incidence rates for a first event were 35.4 per 1000 person-years for any first event (FND or ES), 23.1 per 1000 person-years for a first FND, and 15.4 per 1000 person-years for a first ES. Male sex was independently associated with higher risk (HR 4.20; 95% CI, 1.60-11.04; p = 0.0036).
conclusionsThese data provide pragmatic post-diagnostic risk estimates to guide counseling and surveillance in asymptomatic fCCM.
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