| Autor: |
Tarsy, Daniel, Paul, Robert H., Cohen, Ronald, Ott, Brian R., Salloway, Stephen, Desbiens, Sophie |
| Zdroj: |
Vascular Dementia; 2005, p87-98, 12p |
| Abstrakt: |
Genetic factors play an important role in the etiology of stroke and vascular dementia (VaD). Genetic influences are primarily polygenic, although several monogenic disorders causing stroke have recently been identified. The clearest example of a monogenic disorder causing small artery stroke and vascular dementia is the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome. CADASIL is a useful model for studying the pathogenesis of small artery disease and the correlation between imaging changes and the evolution of clinical symptoms in VaD. CADASIL is a nonatherosclerotic, nonamyloid angiopathy caused by mutations in the Notch-3 gene on chromosome 19. Affected individuals develop subcortical strokes, cognitive deficits, migraines with aura, mood disorders, pseudobulbar palsy, and physical disability in their 50s and 60s (1). Brain magnetic resonance imaging (MRI) reveals large areas of leukoencephalopathy and multiple subcortical lacunar infarctions. More than 500 families have been identified worldwide (2), but the disease is underdiagnosed and its prevalence is unknown. The first transgenic model expressing a notch3 mutation has been developed and considerable progress has been made in understanding the physiology of notch3 signaling and the sequence of arterial degeneration in CADASIL. This chapter concludes with a review of the recent advances in identifying gene candidates of other monogenic and polygenic disorders associated with stroke. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
