Article
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
Neurology - 28 Feb 2006
van der Knaap M S, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison D W, van der Voorn J P, van Dooren S J M, Jakobs C, Barkhof F, Salomons G S
Abstract excerpt
BACKGROUND: Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized. METHODS: The authors studied seven patients with Alexander disease, diagnosed based on mutations in the GFAP gene, who presented unusual MRI findings....
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