title: Association of multiple intracranial aneurysms and collagen type III deficiency.
abstract: The results of a collagen assay performed on cultured skin fibroblasts from a 55-year-old man with multiple cerebral aneurysms are presented. Estimation of the collagen type III production by gel electrophoresis and scanning densitometry shows a reduction of collagen type III levels to 5% of normal. These findings point to the presence of a constitutional connective tissue disorder related to Ehlers-Danlos Syndrome type IV. It is suggested that biochemical collagen studies may be a useful alternative to angiography for detecting relatives at risk in families affected by intracranial aneurysms.
authors: Center for Medical Genetics, University Hospital, Gent, Belgium.
authors: A
authors: A
authors: de Paepe
authors: W
authors: W
authors: van Landegem
authors: F
authors: F
authors: de Keyser
authors: J
authors: J
authors: de Reuck
mesh_terms: D003094:Collagen / Q000172:deficiency*; D006801:Humans; D002532:Intracranial Aneurysm / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D003094:Collagen