Sjogren-Larsson syndrome


Also found in: Acronyms.

Sjö·gren-Lars·son syn·drome

(shōr'gren lar'sŏn), [MIM*270200]
congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.

Sjö·gren-Lars·son syn·drome

(shōr'gren lar'sŏn), [MIM*270200]
congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.

Sjögren-Larsson syndrome

An autosomal recessive condition (OMIM:270200) characterised by ichthyosiform erythroderma, spastic paralysis, mental retardation, retinal degeneration, sparse and brittle hair, enamel hypoplasia, short stature, ocular hypertelorism and metaphyseal dysplasia.

Molecular pathology
Various mutations of ALDH2A2 on chromosome 17p11.2, which encodes fatty aldehyde dehydrogenase.

Larsson,

Tage Konrad Leopold, Swedish scientist, 1905–.
Sjögren-Larsson syndrome - see under Sjögren, Karl Gustaf Torsten

Sjögren,

Karl Gustaf Torsten, Swedish physician, 1859-1939.
Marinesco-Sjögren-Garland syndrome - see under Marinesco
Marinesco-Sjögren syndrome - see under Marinesco
Sjögren syndrome - Synonym(s): Marinesco-Sjögren syndrome
Sjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.
Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndrome
Torsten syndrome - Synonym(s): Marinesco-Sjögren syndrome
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References in periodicals archive ?
MRI and 1H-MRS findings of three patients with sjogren-larsson syndrome. Arq Neuropsiquiatr 2006;64(2B):398-401.
Sjogren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.
Cerebral MRI and spectroscopy in Sjogren-Larsson syndrome: case report.
T2 weighted MRI of a patient with Sjogren-Larsson Syndrome showing High Signal Areas in the Periventricular Region (C).
Diagnosis of Sjogren-Larsson syndrome is confirmed by measurement of FALDH or fatty alcohol: NAD oxidoreductase in cultured skin fibroblasts [7] and/or sequence analysis of ALDH3A2 gene on the locus 17p11.2.
Seyger et al., "Sjogren-Larsson syndrome in clinical practice," Journal of Inherited Metabolic Disease, vol.
Craft, "Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol: NAD+ oxidoreductase in cultured fibroblasts," Journal of Clinical Investigation, vol.
The molecular basis of Sjogren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome. J Neurol Sci 2001;183:61-7.
Sjogren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: nicotinamide adenine dinuclectide oxidoreductase activity.