Abstract
The cerebral phenotype of X-linked adrenoleukodystrophy (ALD) is a rapidly progressive neurodegenerative disorder characterized by a cerebral inflammatory response and elevated very long-chain fatty acids (VLCFA). Interferon-β (INFB) is known to suppress the synthesis of tumour necrosis factor α and interferon-γ, which have been reported to be elevated in the margin of the areas of demyelination in ALD brains. We report on treatment with interferon-β in 8 patients with cerebral ALD, who additionally received glycerol trioleate/glycerol trierucate. INFB-1a (Rebif, Serono, Switzerland) was given subcutaneously once a week, 3 million units for the first 3 months and 6 million units for the next 9 months. All patients showed an unimpeded progression of neurological symptoms during INFB therapy. Therapy was stopped within 6 months in 4 patients because of the fast neurological deterioration with loss of walking. In all patients the MRI demonstrated a progression of demyelination with a qualitatively unchanged gadolinium enhancement. Further studies are needed to elucidate the pathomechanism of demyelination in ALD in order to find an effective therapy for cerebral ALD patients.
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Korenke, G.C., Christen, HJ., Kruse, B. et al. Progression of X-linked adrenoleukodystrophy under interferon-β therapy. J Inherit Metab Dis 20, 59–66 (1997). https://doi.org/10.1023/A:1005361607523
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DOI: https://doi.org/10.1023/A:1005361607523