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
- 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.
- Mukherjee S, Newby E, Harvey JN. Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis. J R Soc Med 2006; 99:245-249.
- Das G, Baglioni P, Kadiyala R. Importance of family history in patients with adrenoleukodystrophy QJM 2010; 103:628-630.
- 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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