51. Hereditary cerebral small vessel diseases: a review.
- Author
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Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, and Dotti MT
- Subjects
- Alopecia diagnosis, Alopecia genetics, CADASIL diagnosis, CADASIL genetics, Cerebral Infarction diagnosis, Cerebral Infarction genetics, Cerebral Small Vessel Diseases classification, Cerebral Small Vessel Diseases diagnosis, Exodeoxyribonucleases genetics, Fabry Disease genetics, High-Temperature Requirement A Serine Peptidase 1, Humans, Leukoencephalopathies diagnosis, Leukoencephalopathies genetics, Leukoencephalopathy, Progressive Multifocal genetics, Magnetic Resonance Imaging, Phosphoproteins genetics, Receptor, Notch3, Receptors, Notch genetics, Serine Endopeptidases genetics, Spinal Diseases diagnosis, Spinal Diseases genetics, Cerebral Small Vessel Diseases genetics, Collagen Type IV genetics, Mutation genetics
- Abstract
Cerebral microangiopathies are responsible of a great number of strokes. In the recent years advances in molecular genetics identified several monogenic conditions involving cerebral small vessels and predisposing to ischemic and/or hemorrhagic stroke and diffuse white matter disease leading to vascular dementia. Clinical features and diagnostic clues of these conditions, [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related cerebral small vessel diseases, autosomal dominant retinal vasculopathy with cerebral leukodystrophy (AD-RVLC), and Fabry's disease] are here reviewed. Albeit with variable phenotypes and with different defective genes, all these disorders produce arteriopathy and microvascular disintegration with changes in brain functions. Specific diagnostic tools are recommended, genetic analysis being the gold standard for the diagnosis., (Copyright © 2012 Elsevier B.V. All rights reserved.)
- Published
- 2012
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