X-linked adrenoleukodystrophy: First report of the Italian Study Group

A. Di Biase, S. Salvati, C. Avellino, M. Cappa, E. Bertini, I. Moroni, M. Rimoldi, G. Uziel

Research output: Contribution to journalArticle

Abstract

In this paper we report Italian data on X-linked adrenoleukodystrophy (ALD) collected from 1985 to 1997. This disease appears to be the most common of the peroxisomal disorders and is associated with a functional defect of the peroxisomal very long chain fatty acid (VLCFA) oxidation. In Italy 117 cases have been recognized, but many cases may be unrecognized due to the heterogeneous clinical manifestations that vary from mild to very severe forms. To control the devastating course of this disease two therapeutic approaches are under evaluation: bone marrow transplantation (BMT) and dietary treatment based on a mixture of glyceroyl trioleate (GTO) and glyceroyl trierucate (GTE). Our experience of 68 subjects submitted to dietary treatment shows that almost all patients with signs of cerebral involvement at the beginning of treatment worsened or died, patients with the milder form, adrenomyeloneuropathy (AMN), remained stable, while 4 of the 15 presymptomatic subjects developed neurological signs of the disease. In recent years a more accurate selection of patients and donors for BMT has given favourable results, but some strict criteria should be respected.

Original languageEnglish
Pages (from-to)315-319
Number of pages5
JournalNeurological Sciences
Volume19
Issue number5
Publication statusPublished - 1998

Keywords

  • Adrenoleukodystrophy
  • Adrenomyeloneuropathy
  • Bone marrow transplantation
  • Dietary treatment
  • Incidence
  • Phenotype
  • Very long chain fatty acids

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Neuroscience(all)

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  • Cite this

    Di Biase, A., Salvati, S., Avellino, C., Cappa, M., Bertini, E., Moroni, I., Rimoldi, M., & Uziel, G. (1998). X-linked adrenoleukodystrophy: First report of the Italian Study Group. Neurological Sciences, 19(5), 315-319.