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Adult-Onset Adrenoleukodystrophy

X-linked adult-onset adrenoleukodystrophy (ALD) presents with manic symptoms, melanoderma, cognitive decline, dysarthria, visual abnormalities, seizures, urinary incontinence, bilateral lower limb tingling, and spasticity.3 Adult-onset ALD represents 1-3% of all ALD phenotypes.1 Age of onset ranges from 23-36 years.3 Pathogenesis involves a missense mutation in the ABCD1 gene.3 Diagnosis is confirmed by elevated very long chain fatty acids (C24 -C26) and genetic testing.3 Differentials include metachromatic leukodystrophy, Krabbe disease, and multiple sclerosis.3 Prominent neuropsychiatric symptoms, and MRI-FLAIR sequences exhibiting bilateral confluent, parieto-occipital white matter hyper-intensities with characteristic peripheral linear contrast enhancement, help differentiate this condition from other phenotypes.1,2,3 Early diagnosis is vital, as bone marrow transplantation has shown benefits in asymptomatic patients.2,3


  1. Luda E, Barisone MG. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. Neurol Sci. 2001;22(1):21-25; doi:10.1007/s100720170032
  2. Galvão ACR, Machado-Porto GCL, Porto FHG, Lucato LT, Nitrini R. Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings. Dement Neuropsychol. 2012;6(4):290-295; doi:10.1590/S1980-57642012DN06040015
  3. Rosebush PI, Garside S, Levinson AJ, Mazurek MF. The neuropsychiatry of adult-onset adrenoleukodystrophy. J Neuropsychiatry Clin Neurosci. 1999;11(3):315-327; doi:10.1176/jnp.11.3.315

Thomas J, Khan F.; e-pearl American Academy of Neurology