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First intravenous thrombolysis for pCys194Arg Notch 3 mutation in a Moroccan CADASIL patient with stroke
1Neurology Department, Agadir Military Hospital, Agadir, Morocco.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic condition affecting blood vessels in the brain. This study explores the safety and effectiveness of intravenous thrombolysis for acute ischemic stroke in CADASIL patients.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic disorder caused by NOTCH3 gene mutations.
- It leads to progressive cerebrovascular damage, manifesting as strokes, dementia, and migraines.
- Characteristic MRI findings include white matter abnormalities and subcortical infarcts.
Observation:
- A case of acute ischemic stroke in a CADASIL patient treated with intravenous tenecteplase is presented.
- A literature review was conducted to assess intravenous thrombolysis in CADASIL.
Findings:
- Intravenous thrombolysis in CADASIL patients for acute ischemic stroke requires careful consideration.
- The review aims to consolidate evidence on the effectiveness and safety of this treatment modality in the CADASIL population.
Implications:
- Understanding the risks and benefits of thrombolysis is crucial for managing acute stroke in CADASIL.
- This review may guide clinical decision-making and future research in CADASIL stroke management.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene. Clinical manifestations of CADASIL include lacunar infarcts, transient ischemic attacks, dementia, migraine, and psychiatric disorders. Cerebral MRI can show signal abnormalities in the basal ganglia and white matter, especially characteristic when located in the anterior part of the temporal lobe and external capsules. We report CADASIL patient treated with intravenous tenectelase for acute ischemic stroke, and we present a review of literature aimed to report effectiveness and safety of intravenous thrombolysis in CADASIL patients.
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