Article
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Human mutation - 1 Oct 2006
Linnebank Michael, Semmler Alexander, Kleijer Wim J, van der Sterre Marianne L T, Gärtner Jutta, Fliessbach Klaus, Sokolowski Piotr, Köhler Wolfgang, Schlegel Uwe, Klockgether Thomas, Wanders Ronald J A, Schmidt Stephan, Wüllner Ullrich, Kemp Stephan
Abstract excerpt
The clinical course of X-linked adrenoleukodystrophy (X-ALD) is of unexplained heterogeneity. Major X-ALD phenotypes are the progressive childhood cerebral form (CCALD) with early confluent cerebral demyelination and the adult-onset adrenomyeloneuropathy (AMN). Adult AMN may present with demyelinated foci of the CNS (adrenoleukomyeloneuropathy, ALMN) or without ("pure" AMN). Activated methionine is essential for...
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