Cerebral amyloid angiopathy (amyloid angiopathy Cerebral) - Gen APP  

Cerebral amyloid angiopathy is a clinicopathological entity characterized by amyloid deposition in medial and adventitial layers of the arteries, arterioles and veins from the cerebral cortex, cerebellum and leptomeninges. As a result of amyloid deposits, the walls of blood vessels are affected, resulting in increased susceptibility to bleeding. It is a characteristic lesion of Alzheimer's patients, but not exclusive, since it also has been found in cognitively healthy patients.

It has been estimated that cerebral amyloid angiopathy, despite being rare in individuals under 50 years, is responsible for 15% of intracerebral hemorrhage in patients older than 60 years and up to 50% when subjects are older than 70 years.

Cerebral amyloid angiopathy, plus a spontaneous condition common in the elderly, is also presented as a familial syndrome in which demonstrations are developed, usually earlier (55 years) and more severely. The vast majority of these forms are due to mutations in the APP gene that alter the biological properties of ?- amyloid peptides and their deposition. Specifically, all mutations found so far and associated with cerebral amyloid angiopathy are located in exons 16 and 17 of the APP gene are duplications or the entire gene.

Tests in IVAMI: in IVAMI perform the detection of mutations associated with cerebral amyloid angiopathy by PCR amplification followed by sequencing of exons 16 and 17 of the APP gene, which are located most of genetic alterations associated with this entity clinico pathological. The study of duplications, recommended in case of negative result of exons 16 and 17, the test is performed by quantitative real - time PCR (qPCR Real Time) .. the possibility is offered, in any case, of the study complete gene (18 exons, 19 amplifications).

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).