Article
Cerebrospinal fluid matrix metalloproteinases are elevated in cerebral adrenoleukodystrophy and correlate with MRI severity and neurologic dysfunction.
PloS one - 1 Jan 2012
Thibert Kathryn A, Raymond Gerald V, Nascene David R, Miller Weston P, Tolar Jakub, Orchard Paul J, Lund Troy C
Abstract excerpt
BACKGROUND: X-linked adrenoleukodystrophy results from mutations in the ABCD1 gene disrupting the metabolism of very-long-chain fatty acids. The most serious form of ALD, cerebral adrenoleukodystrophy (cALD), causes neuroinflammation and demyelination. Neuroimaging in cALD shows inflammatory changes and indicates blood-brain-barrier (BBB) disruption. We hypothesize that disruption may occur through the...
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