Sjögren-Larsson Syndrome

J. B. Roullet; W. B. Rizzo

doi:10.1016/B978-0-12-385157-4.00092-0

Sjögren-Larsson Syndrome

J. B. Roullet, W. B. Rizzo

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

2 Scopus citations

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)
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	https://doi.org/10.1016/B978-0-12-385157-4.00092-0
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

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10.1016/B978-0-12-385157-4.00092-0

Cite this

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title = "Sj{\"o}gren-Larsson Syndrome",

abstract = "Sj{\"o}gren-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.",

keywords = "ALDH3A2, Dysmyelination, Fatty alcohols, Fatty aldehyde dehydrogenase, Growth delay, Ichthyosis, Intellectual disability, Isoprenols, Sj{\"o}gren-Larsson syndrome, Spasticity, White matter disease",

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AU - Rizzo, W. B.

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AB - 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.

KW - ALDH3A2

KW - Dysmyelination

KW - Fatty alcohols

KW - Fatty aldehyde dehydrogenase

KW - Growth delay

KW - Ichthyosis

KW - Intellectual disability

KW - Isoprenols

KW - Sjögren-Larsson syndrome

KW - Spasticity

KW - White matter disease

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BT - Encyclopedia of the Neurological Sciences

PB - Elsevier Inc.

ER -

Sjögren-Larsson Syndrome

Abstract

Keywords

ASJC Scopus subject areas

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