COL4A1 Mutations: Clinical and Radiological Phenotypes in a French Adult Cohort (S15.006)

CONCLUSIONS:Hemorrhagic deep strokes associated with sign of SBVD are the main expression of COL4A1 mutation in adulthood. Late onset and absence of stroke family did not reject this diagnostic hypothesis. The diagnosis has to be evoked in cases of associated ventricular abnormalities, intracranial aneurysm, renal or ophthalmological injury.Disclosure: Dr. Siri has nothing to disclose. Dr. Tournier-Lasserve has nothing to disclose. Dr. Mine has nothing to disclose. Dr. Magnin has nothing to disclose. Dr. Berger has received personal compensation for activities with Biogen-Idec and Novartis as a speaker. Dr. Arquizan has nothing to disclose. Dr. Ayrignac has nothing to disclose. Dr. Carra-Dalliere has nothing to disclose. Dr. Castelnovo has nothing to disclose. Dr. De Champfleur has nothing to disclose. Dr. Labauge has nothing to disclose. Dr. Neau has nothing to disclose. Dr. Rouaud has nothing to disclose. Dr. Alamowitch has nothing to disclose.

Source: Neurology - April 9, 2014 Category: Neurology Authors: Siri, A., Tournier-Lasserve, E., Mine, M., Magnin, E., Berger, E., Arquizan, C., Ayrignac, X., Carra-Dalliere, C., Castelnovo, G., De Champfleur, N., Labauge, P., Neau, J. P., Rouaud, T., Alamowitch, S. Tags: Cerebrovascular Disease and Interventional Neurology: Clinical and Imaging Biomarkers and Genetics Source Type: research