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Hereditary cerebral small vessel diseases: a review
Antonio Federico1, Ilaria Di Donato, Silvia Bianchi
1Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy. federico@unisi.it
Journal of the Neurological Sciences
|August 8, 2012
Summary
Monogenic cerebral microangiopathies cause strokes and vascular dementia by affecting small blood vessels. Genetic analysis is key to diagnosing these conditions, including CADASIL and Fabry
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral microangiopathies are a significant cause of strokes and vascular dementia.
- Advances in molecular genetics have identified several monogenic disorders affecting cerebral small vessels.
Purpose of the Study:
- To review the clinical features and diagnostic clues of monogenic cerebral small vessel diseases.
- To highlight the genetic basis and common pathophysiology of these conditions.
Main Methods:
- Literature review of monogenic cerebral microangiopathies.
- Analysis of clinical presentations and genetic findings.
- Discussion of diagnostic approaches.
Main Results:
- Identified conditions include CADASIL, CARASIL, COL4A1-related diseases, AD-RVLC, and Fabry's disease.
- These disorders share a common pathology of arteriopathy and microvascular disintegration.
- Phenotypic variability exists despite shared underlying mechanisms.
Conclusions:
- Monogenic cerebral small vessel diseases lead to arteriopathy, microvascular disintegration, and altered brain function.
- Genetic analysis is the definitive diagnostic method.
- Early diagnosis and understanding genetic underpinnings are crucial for management.
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