Adrenoleukodystrophy (ALD): neurological features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Adrenoleukodystrophy (ALD): neurological features. Childhood cerebral ALD, Adolescent cerebral ALD. Fully referenced neurology checklist.

Clinical phenotypes

  • Childhood cerebral ALD
  • Adolescent cerebral ALD
  • Adult cerebral ALD
  • Adrenomyeloneuropathy (AMN)
  • Isolated adrenocortical insufficiency (Addison’s disease)
  • Asymptomatic and pre-symptomatic
  • Symptomatic female heterozygotes
  • Spinocerebellar variant

Cerebral features

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Psychiatric features

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Cranial nerve features

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Peripheral neuropathy features

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Features of adrenomyeloneuropathy (AMN)

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Gender differences

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Course and outcome

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References

  1. van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. JNNP 1997; 63:4-14.
  2. Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-1508.
  3. Mukherjee S, Newby E, Harvey JN. Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis. J R Soc Med 2006; 99:245-249.
  4. Das G, Baglioni P, Kadiyala R. Importance of family history in patients with adrenoleukodystrophy QJM 2010; 103:628-630.
  5. Kumar AJ, Köhler W, Kruse B, et al. MR findings in adult-onset adrenoleukodystrophy. Am J Neuroradiol 1995; 16:1227-1237.
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