title: Progression of X-linked adrenoleukodystrophy under interferon-beta therapy.
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-beta (INFB) is known to suppress the synthesis of tumour necrosis factor alpha and interferon-gamma, which have been reported to be elevated in the margin of the areas of demyelination in ALD brains. We report on treatment with interferon-beta in 8 patients with cerebral ALD, who additionally received glycerol trioleate/glycerol trierucate. INFB-1 a (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.
authors.affiliation: Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.
authors.forename: G C
authors.initials: GC
authors.lastname: Korenke
authors.forename: H J
authors.initials: HJ
authors.lastname: Christen
authors.forename: B
authors.initials: B
authors.lastname: Kruse
authors.forename: D H
authors.initials: DH
authors.lastname: Hunneman
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology; D000963:Antimetabolites / Q000627:therapeutic use*; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D002648:Child; D018450:Disease Progression; D005074:Evoked Potentials, Visual; D005227:Fatty Acids / Q000032:analysis; D006801:Humans; D000068556:Interferon beta-1a; D016899:Interferon-beta / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D014960:X Chromosome
chemical_list: D000963:Antimetabolites; D002556:Cerebrospinal Fluid Proteins; D005227:Fatty Acids; D016899:Interferon-beta; D000068556:Interferon beta-1a