Vascular Disorders: Angiopathies
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Other angiopathies include sporadic and familial angiopathies. Sporadic angiopathies include among others cerebral amyloid (congophilic) angiopathy, fibromuscular dysplasia, Moyamoya angiopathy, Binswanger disease, and Fahr disease. Familial angiopathies are CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), CARASIL (cerebral recessive dominant arteriopathy with subcortical infarcts and leukoencephalopathy), CARASAL (cathepsin A-related arteriopathy with strokes and leukoencephalopathy), hereditary vascular retinopathy, HERNS (hereditary endotheliopathy with retinopathy, nephropathy, and stroke), and COL4A1 mutations (combined small vessel and large arterial disease).
Cerebral amyloid angiopathy (CAA) is a heterogeneous disease clinically characterized by ischemic or hemorrhagic changes. Amyloid deposits in the wall of leptomeningeal and cortical vessels are the histopathological hallmark. Micro- and macrobleedings, cortical siderosis, and leukoencephalopathy are features seen with brain imaging techniques. The deposition of Aβ-protein which is 42 amino acids long and cleaved from the amyloid precursor protein leads to damage of the medial smooth muscle cell disrupting the vascular architecture and weakening the arterial wall. There is a dose-dependent association between APOE ɛ4 and sporadic CAA. Treatment includes surgical removal of hemorrhage while clinical outcome is poor as recurrent hemorrhages are frequent.
Binswanger disease is a rare neurodegenerative disorder showing leukoencephalopathy, lacunar infarcts and mircobleeds, myelin pallor, regions of necrotic tissue damage, and axonal damage. Arterioles of the white matter with hyalinotic thickening of the vessel wall and widening of the perivascular spaces are a prominent feature of the disease. Pathogenesis is unknown. Treatment consists of the management of hypertension and diabetes with calcium channel blocker nimodipine and cerebral vasodilators. Clinical outcome is variable; usually, the disease is progressive.
Familial idiopathic basal ganglia calcification (Fahr disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. It is encountered in patients presenting with hypo- or hyperparathyroid disorders (phosphate imbalance disorder). It is associated with some genes (e.g., PDGFRß (encodes a member of the platelet-derived growth factor receptor family type β).
CADASIL is a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy presenting with typical and atypical clinical manifestations. The pathognomonic ultrastructural change consists of deposition of granular osmiophilic material (GOM) commonly found in small-sized arterioles (seldomly small capillaries or veins). CADASIL is due to mutations of the gene encoding the transmembrane receptor Notch 3. Symptomatic treatment of migraine, cognitive decline, and primary and secondary stroke prevention is used. Clinical outcome is variable.
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