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 language | English (US) |
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Title of host publication | Encyclopedia of the Neurological Sciences |
Publisher | Elsevier Inc. |
Pages | 179-184 |
Number of pages | 6 |
ISBN (Electronic) | 9780123851574 |
ISBN (Print) | 9780123851581 |
DOIs | |
State | Published - 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
- General Medicine