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Max Planck Institute of Experimental Medicine – Prof. Klause –Armin Nave
Celia Kassmann, Hauke Werner in collaboration with S. Forss-Petter (Wien), J.
Berger (Wien) and M. Baes (Leuven)
X-linked adrenoleukodystrophy (ALD) is the most frequent inherited CNS myelin disease
(leukodystrophy) in children. This neurological disorder is caused by mutations of the
X chromosome-linked adrenoleukodystrophy protein gene (Abcd1). Severely affected ALD
patients are young males with a rapidly progressing, lethal CNS demyelination but a
slowly progressing non-inflammatory degeneration of spinal cord axons (Adrenomyeloneuropathy, AMN).
Both ALD and AMN patients suffer from adrenocortical insufficiency. (Addisons disease).
The responsible Abcd1 gene encodes an ABC transporter (ALDP) specific for peroxisomes.
Accumulation of very long chain fatty acids (VLCFA ) is typical for this and other peroxisomal
disorders, but whether this biochemical defect is the cause of the demyelination or merely a
biochemical marker is not known.
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