Association of multiple intracranial aneurysms and collagen type III deficiency.
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.
de Paepe
A
A
Center for Medical Genetics, University Hospital, Gent, Belgium.
van Landegem
W
W
de Keyser
F
F
de Reuck
J
J
D003094:Collagen / Q000172:deficiency*; D006801:Humans; D002532:Intracranial Aneurysm / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D003094:Collagen