CADASIL autosomal dominant

Missense mutations in the Notch3 gene cause CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and lenkoencephalopathy). Notch is a type I integral membrane protein proteolytically processed in its extracellular domain by fnrin and the metalloproteinase knzbanian. The signal transduction cascade... 

Many individuals with LA also harbor lacunar and/or cortical infarcts. Presence of LA serves as an intermediate surrogate both for ischemic stroke and intracerebral hemorrhage as they all share similar risk factors and similar pathophysiological mechanisms (Inzitari 2003). LA is widely found in dementing illnesses, such as Alzheimer s disease, vascular dementia, and cerebral autosomal dominant arteri-opathy with subcortical infarcts and leukoencepha-lopathy (CADASIL). Failure of blood supply in the... 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)... 

Razvi SS M, Davidson R, Bone I et al. (2005). The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. 

Sometimes arterial occlusion is demonstrated by angiography in migrainous stroke and the cause is hypothesized to be in-situ thrombosis complicating vasospasm. No provoking factors are known. Other possible causes of stroke in the context of headache must be considered carotid dissection, mitochondrial cytopathy, ruptured vascular malformation, antiphospholipid antibody syndrome and CADASIL (cerebral autosomal dominant arterio-pathy with subcortical infarcts and leukoencephalopathy). Migraine auras without headache may be confused with TIA (Ch. 8). 

Cerebral microbleeds are seen frequently in patients with primary intracerebral hemorrhage, less commonly in patients with ischemic stroke and rarely in healthy controls (Cordonnier et al. 2007). Risk factors for cerebral microbleeds include hypertension, increasing age, diabetes, cerebral amyloid angiopathy and, less commonly, cerebral autosomal dominant arteriopathy with silent infarcts and leukoaraiosis (CADASIL) (Cordoimier et al. 2007). It is unclear whether previous use of antiplatelet agents or anticoagulants is a risk factor for cerebral microbleeds. 

Cerebral ischemic injury is a common cause of dementia in older adults. Combination cases of vascular dementia and Alzheimer disease are also quite frequent. Vascular causes of dementia include subcortical vascular dementia, multi-infarct dementia, ischemic dementia, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and leuko-araiosis (see the Cerebrovascular Diseases section earlier in this chapter). ... 

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