Article
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
Annals of neurology - 1 Mar 2006
van der Knaap Marjo S, Smit Leo M E, Barkhof Frederik, Pijnenburg Yolande A L, Zweegman Sonja, Niessen Hans W M, Imhof Saskia, Heutink Peter
Abstract excerpt
OBJECTIVE: The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macrobleeds in the context of a collagen IV A1 mutation. METHODS: We examined a family with autosomal dominant porencephaly, in whom a defect in collagen IV A1 was detected recently. The patients underwent neurological, ophthalmological, and cardiological examinations and magnetic resonance imaging of the...
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