Adrenoleukodystrophy (ALD): neurological features

Evidence-based neurology checklist on adrenoleukodystrophy (ald): neurological features: Clinical phenotypes Childhood cerebral ALD Adolescent cerebral ALD Adult cerebral ALD Adrenomyeloneuropathy (AMN) Isolated adrenocortical insufficiency (Addison’s disease) Asymptomatic and pre-symptomatic…

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

Psychiatric features

Cranial nerve features

Peripheral neuropathy features

Features of adrenomyeloneuropathy (AMN)

Gender differences

Course and outcome

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.
  6. And 13 more. Subscribe to see the full list

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