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.
|Titolo:||Hereditary cerebral small vessel diseases: A review.|
|Rivista:||JOURNAL OF THE NEUROLOGICAL SCIENCES|
|Citazione:||Federico, A., DI DONATO, I., Bianchi, S., Di Palma, C., Taglia, I., & Dotti, M. (2012). Hereditary cerebral small vessel diseases: A review. JOURNAL OF THE NEUROLOGICAL SCIENCES, 15(322), 25-30.|
|Appare nelle tipologie:||1.1 Articolo in rivista|