Sjögren-Larsson Syndrome

J. B. Roullet, W. B. Rizzo

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Sjögren-Larsson syndrome (SLS; MIM 270200) is a rare autosomal recessive disease, characterized by ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Brain neuroimaging reveals white matter disease and abnormal lipid peaks are detected on magnetic resonance spectroscopy. The disorder is caused by mutations in the ALDH3A2 gene that result in deficiency of fatty aldehyde dehydrogenase and impaired oxidation of long-chain aliphatic aldehydes and alcohols. The pathogenesis of SLS is hypothesized to arise from accumulation of fatty aldehydes, fatty alcohols, and related lipids, which disrupts the multilamellar membranes of myelin and stratum corneum.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Pages179-184
Number of pages6
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

Keywords

  • ALDH3A2
  • Dysmyelination
  • Fatty alcohols
  • Fatty aldehyde dehydrogenase
  • Growth delay
  • Ichthyosis
  • Intellectual disability
  • Isoprenols
  • Sjögren-Larsson syndrome
  • Spasticity
  • White matter disease

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Roullet, J. B., & Rizzo, W. B. (2014). Sjögren-Larsson Syndrome. In Encyclopedia of the Neurological Sciences (pp. 179-184). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-385157-4.00092-0