Article
COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Apr 2020
Campo-Caballero David, Rodriguez-Antigüedad Jon, Ekiza-Bazan Jon, Iruzubieta-Agudo Pablo, Fernández-Eulate Gorka, Muñoz-Lopetegui Amaia, Martínez-Zabaleta Maite, de la Riva Patricia, Urtasun-Ocariz Miguel, López de Munain Adolfo, de Arce Ana
Abstract excerpt
The COL4A1 mutation is a very rare monogenic cause of small vessel disease related to recurrent intracerebral hemorrhage. We report a family in which the index case presented with two intracerebral hemorrhages in the basal ganglia with severe periventricular leukoaraiosis and a cataract and vascular tortuosity in the ophthalmological study. His twin brother also had severe leukoaraiosis and multiple subcortical...
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