The cystathionine beta-synthase c.844_845ins68 polymorphism protects against CNS demyelination in X-linked adrenoleukodystrohpy
M. Linnebank, A. Semmler, S. Moskau, W.J. Kleijer, M.L.T. van der Sterre, J. Gärtner, K. Fliessbach, P. Sokolowski, W. Köhler, U. Schlegel, T. Klockgether, R.J.A. Wanders, S. Schmidt, U. Wüllner, S. Kemp · Aktuelle Neurologie · 2006 · Heft 09
Bibliografische Angaben
Zusammenfassung
Aims: 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 such changes („pure“ AMN). Activated methionine is essential for CNS myelination, and methionine metabolism is important for glutathione synthesis, which may influence neurodegeneration. Cystathionine beta-synthase (CBS) is a key enzyme of methionin…
