Adrenoleukodystrophy (ALD): genetics and pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Adrenoleukodystrophy (ALD): genetics and pathology. This is caused by mutations in the ABCD1 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ABCD1 gene
- The gene encodes adrenoleukodystrophy protein (ADLP)
- The transmission is X-linked recessive
Pathogenesis
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Pathology
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Acronym
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References
- Mukherjee S, Newby E, Harvey JN. Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis. J R Soc Med 2006; 99:245-249.
- Kumar AJ, Köhler W, Kruse B, et al. MR findings in adult-onset adrenoleukodystrophy. Am J Neuroradiol 1995; 16:1227-1237.
- 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.
- van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. JNNP 1997; 63:4-14.
- Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-1508.
