OBJECTIVES: @entity5380 are linked to mutations of the @entity14826 gene at the @entity14826 locus and to mutations at two other loci, @entity32084 and @entity32085 , for which genes are not yet identified. There is little information regarding the function of @entity14826 . Histological and immunocytochemical analysis of cavernous @entity600 have not shed much light on their pathophysiology. METHODS: Morphological analysis of cavernous @entity600 was extended to the ultrastructural level by examining lesions from two @entity1 by immunocytochemistry and electron microscopy. RESULTS: The lesions consisted of endothelial lined vascular sinusoids embedded in a collagen matrix. Nuclei belonging to cells distinct from endothelial cells were rare. The basal lamina of the endothelial cells consisted focally of multiple layers. No tight junctions at endothelial cell interfaces were found; however, several examined endothelial cell interfaces demonstrated apparent gaps between endothelial cell processes where basal lamina was exposed directly to the lumen of the sinusoids. Heavy hemosiderin deposits were found underlying the vascular channels within microns of the basal lamina without evidence of disrupted vessels. No astrocytic foot processes were seen within lesions. Glial fibrillary acidic protein immunocytochemistry confirmed that astrocyte processes stopped at the border of the lesions. CONCLUSIONS: The absence of blood-brain barrier components may lead to leakage of red blood cells into these lesions and the surrounding brain in the absence of major @entity548 , thus accounting for the propensity of cavernous @entity600 to cause @entity410 . These data also raise the possibility that @entity14826 plays a part in the formation of endothelial cell junctions and expression of a mature vascular phenotype.

Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizures'] @entity548 :: ('MESH:D006470', 'Disease') :: ['haemorrhage'] @entity32084 :: ('83605', 'Gene') :: ['CCM2'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformations'] @entity5380 :: ('MESH:D020786', 'Disease') :: ['Cerebral cavernous malformations'] @entity14826 :: ('889', 'Gene') :: ['KRIT1', 'CCM1'] @entity32085 :: ('11235', 'Gene') :: ['CCM3']
@entity600 :: (MESH:D000014,Disease) :: ['malformations']
