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CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
1Laboratory of Neuropathology, Hopital Roger Salengro, Lille, France.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition causing stroke and vascular dementia. This review clarifies its pathological features and underlying mechanisms, highlighting its underdiagnosis worldwide.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder.
- It is caused by Notch 3 gene mutations and leads to stroke and vascular dementia.
- Initially reported in European families, CADASIL is now recognized globally, suggesting it is underdiagnosed.
Purpose of the Study:
- To define the pathological features of CADASIL.
- To explore the pathophysiological mechanisms involved in CADASIL.
- To provide a clearer definition of CADASIL pathology based on reviewed literature.
Main Methods:
- Literature review from 1977 to the present.
- Inclusion of pathologically and genetically verified cases.
- Focus on cases with complete clinical descriptions.
Main Results:
- CADASIL presents with white matter and basal ganglia pathology, similar to Binswanger's disease.
- It is increasingly recognized as a systemic vascular disease with distinct features.
- Pathological and genetic data are crucial for diagnosis.
Conclusions:
- CADASIL is a significant cause of stroke and vascular dementia.
- Further research into its pathological and pathophysiological aspects is warranted.
- Increased awareness and diagnostic efforts are needed globally.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified cause of stroke and vascular dementia. It is a condition of mid-adulthood due to mutations of Notch 3 gene on chromosome 19. Whereas the disease was first reported in European families, since 1993 CADASIL has been observed in American, African and Asiatic pedigrees, suggesting that today, the disease probably still remains largely underdiagnosed. The pathological data first dealt with the white matter and the basal ganglia showing the features observed in Binswanger's subcortical arteriopathic encephalopathy; over the past few years, CADASIL has become appreciated as a systemic vascular disease with specific features. Here we have reviewed the literature from 1977 to the present for pathologically and genetically verified cases accompanied by relatively complete clinical descriptions so as to give the pathological features associated with this condition a clearer definition. The review will focus mainly on pathological studies and the pathophysiological mechanisms most likely to be involved in CADASIL.