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Adrenoleukodystrophy

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Chapter
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism which is characterized by an accumulation of saturated very long chain fatty acids. Fatty acid accumulation is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. At least six phenotypes have been distinguished, of which the two most frequent are childhood-cerebral ALD and adrenomyeloneuropathy (AMN). The X-ALD gene was identified and mapped to Xq28. Initially, only men were thought to be affected by the disease, but it is now recognized that female carriers are also at risk for X-ALD.

Keywords

Chain Fatty Acid Female Carrier Periventricular White Matter Spastic Paraparesis Poor School Performance 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Adrenoleukodystrophy.mp4 (MP4 11,090KB)

This is not an example of dystonia. The examination actually shows spastic tetraplegia which is more extensive in the upper than lower limbs. There are spastic contractures in the upper limbs at the elbow and finger flexors. There is marked facial masking and absence of spontaneous movements. Vision was impaired and he was unable to cooperate for eye movement examination.

References

  1. 1.
    van Geel BM, Assies J, Wanders RJA, et al. X linked adrenoleukodystrophy: clinical presentation, diagnosis and therapy. J Neurol Neurosurg Psychiatry. 1997;63:4–14.PubMedCentralPubMedCrossRefGoogle Scholar
  2. 2.
    Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 1993;361:726–30.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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