cerebral cavernous malformations 1

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cerebral cavernous malformations 12016-11-25T07:40:46+00:00

cerebral cavernous malformations 1 

EMBRYOLOGY, GENETICS, NEUROLOGY, VASCULAR DISEASE

A congenital vascular anomaly (OMIM:116860) of the CNS which may cause haemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits.

Pathology Grossly enlarged blood vessels with a single layer of endothelium and no intervening neural tissue, ranging in diameter from a few millimetres to several centimetres.

Molecular pathology Defects of KRIT1, which encodes a protein required for endothelial integrity and a crucial regulator of heart and vessel formation and integrity, and downregulator of angiogenesis, cause cerebral cavernous malformations 1.

Synonyms Cavernous angioma—familial, cavernous angiomatous malformations, cavernous malformations of the central nervous system and retina included, CCM, CCM1, hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations included 

References http://www.uniprot.org/uniprot/O00522

http://www.omim.org/entry/116860

 

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