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[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)]
H Chabriat1, A Joutel, K Vahedi
1Service de Neurologie, Hôpital Saint-Antoine, Paris.
Insights
Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic small artery disease affecting the brain. Currently, no specific treatments exist for this debilitating condition.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Context:
- CADASIL is a recently identified, inherited small vessel disease predominantly affecting the brain.
- It manifests in mid-adulthood with recurrent ischemic events, migraine with aura, mood disorders, and cognitive decline.
- MRI reveals widespread white matter changes (leukoencephalopathy).
Purpose:
- To provide a concise overview of CADASIL, a significant neurological disorder.
- To highlight the genetic basis and clinical characteristics of CADASIL.
- To underscore the lack of specific treatments and the disease's progressive nature.
Summary:
- CADASIL is an autosomal dominant condition linked to mutations in the Notch 3 gene on chromosome 19.
- Clinical features include recurrent strokes, migraines, mood disturbances, and subcortical dementia.
- The disease leads to significant morbidity and mortality, with a mean survival of 20 years post-onset.
Impact:
- Emphasizes the urgent need for targeted therapeutic strategies for CADASIL.
- Highlights the importance of genetic counseling and early diagnosis for affected families.
- Contributes to understanding small vessel diseases of the brain and their genetic underpinnings.
Abstract:
Recently identified, CADASIL is a diffuse disease of small arteries, predominating in the brain. It starts during mid-adulthood and is characterized by recurrent ischemic events (transient or permanent), attacks of migraine with aura, severe mood disorders, subcortical dementia and, at MRI, a white spread leukoencephalopathy. There is so far no specific treatment and death occurs after a mean of twenty years. CADASIL is an autosomal dominant condition and the gene Notch 3 is located on chromosome 19, in the same region as another neurological disorder, familial hemiplegic migraine.