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.
Clinical Trials
Active clinical trials are currently in progress to see if proposed treatments are effective or not:
- Glyceryl Trioleate (Lorenzo's oil)
- Beta Interferon and Thalidomide
- Combination of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil)
- Hematopoietic stem cell transplantation
Lorenzo Odone
Lorenzo Michael Murphy Odone (May 29, 1978 – May 30, 2008) was probably the most famous patient with ALD.
His parents Augusto and Michaela Odone, frustrated by the limited treatment available, sparked the invention
of "Lorenzo's oil", which is still being studied to see if it has therapeutic benefit in halting the
destruction of the myelin sheathing of nerves caused by this disease.
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