Adrenoleukodystrophy (ALD): genetics and pathology

Evidence-based neurology checklist on adrenoleukodystrophy (ald): genetics and pathology: Genetics This is caused by mutations in the ABCD1 gene The gene encodes adrenoleukodystrophy protein (ADLP) The transmission is X-linked recessive Pathogenesis Pathology Acronym

Genetics

  • This is caused by mutations in the ABCD1 gene
  • The gene encodes adrenoleukodystrophy protein (ADLP)
  • The transmission is X-linked recessive

Pathogenesis

Pathology

Acronym

References

  1. Mukherjee S, Newby E, Harvey JN. Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis. J R Soc Med 2006; 99:245-249.
  2. Kumar AJ, Köhler W, Kruse B, et al. MR findings in adult-onset adrenoleukodystrophy. Am J Neuroradiol 1995; 16:1227-1237.
  3. Stradomska TJ, Kubalska J, Janas R, Tylki-Szymanska A. Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy. Eur J Endocrinol 2012; 166:291-294. 
  4. van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. JNNP 1997; 63:4-14.
  5. Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-1508.

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