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[X-linked adrenoleukodystrophy].

P Aubourg1

  • 1Service d'endocrinologie et de neurologie pédiatrique, hôpital Saint-Vincent-de-Paul, Inserm U745, 82, avenue Denfert-Rochereau, 75014 Paris, France. aubourg@paris5.inserm.fr

Annales D'Endocrinologie
|May 29, 2007
PubMed
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X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder characterized by demyelination and adrenal insufficiency. Early diagnosis through ABCD1 gene mutation analysis and plasma very-long-chain fatty acids is crucial for potential treatment benefits.

Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • X-linked adrenoleukodystrophy (ALD) is a severe inherited neurodegenerative disorder.
  • It involves progressive demyelination in the nervous system, adrenal insufficiency (Addison's disease), and very-long-chain fatty acid (VLCFA) accumulation.
  • ALD affects approximately 1 in 17,000 individuals, with varied phenotypes including cerebral demyelination and adrenomyeloneuropathy (AMN).

Purpose of the Study:

  • To summarize the key aspects of X-linked adrenoleukodystrophy (ALD).
  • To highlight diagnostic methods and potential therapeutic interventions.
  • To underscore the importance of early detection and genetic counseling.

Main Methods:

  • Diagnosis relies on measuring plasma VLCFA levels and genetic testing for ABCD1 gene mutations.

Related Experiment Videos

  • Prenatal diagnosis is available through DNA-based mutation detection.
  • Clinical assessment includes monitoring for adrenal insufficiency and neurological symptoms.

    • Main Results:

    • Plasma VLCFA measurement identifies 100% of affected males and 80-95% of heterozygous women.
    • ABCD1 gene mutations are the cause, but genotype-phenotype correlation is lacking.
    • Allogeneic bone marrow transplantation offers a cure if performed early in cerebral ALD.

    Conclusions:

    • Early diagnosis of ALD is critical for effective intervention, particularly bone marrow transplantation.
    • Genetic counseling is essential for identifying at-risk women and asymptomatic boys.
    • While Addison's disease requires treatment, it doesn't alter neurological progression; dietary therapy has limited efficacy.