Sjogren-Larsson syndrome

Common Name(s)

Sjogren-Larsson syndrome

Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), mental retardation, and spasticity (stiffness and involuntary muscle spasms).  The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. Treatment is symptomatic.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sjogren-Larsson syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sjogren-Larsson syndrome" returned 47 free, full-text research articles on human participants. First 3 results:

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.
 

Author(s): Anderson Rodrigues Brandão de Paiva, Uirá Souto Melo, Fernando Freua, Denise Dória, Katiane Sayão Souza Cabral, Lúcia Inês Macedo-Souza, Leandro Tavares Lucato, Fernando Kok

Journal: Arq Neuropsiquiatr. 2018 Apr;76(4):283.

 

Last Updated: 31 Dec 1969

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Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome.
 

Author(s): Oded Shamriz, Vered Molho-Pessach, Avraham Shaag, Hagit Daum, Polina Stepensky

Journal: Isr. Med. Assoc. J.. 2016 Oct;18(10):636-638.

 

Last Updated: 31 Dec 1969

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Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.
 

Author(s): Eveline Teresa Hidalgo, Cordelia Orillac, Andrew Hersh, David H Harter, William B Rizzo, Howard L Weiner

Journal: J. Child Neurol.. 2017 01;32(1):100-103.

 

Intrathecal baclofen therapy is widely accepted as a treatment option for patients with severe spasticity. The current treatment of spasticity in patients with Sjögren-Larsson syndrome is largely symptomatic, given that no effective causal therapy treatments are available. We report ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sjogren-Larsson syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Sjögren-Larsson syndrome.
 

Author(s): Neil Gordon

Journal: Dev Med Child Neurol. 2007 Feb;49(2):152-4.

 

Sjögren-Larsson syndrome is a recessively inherited syndrome caused by deficiency of fatty aldehyde dehydrogenase. The most common symptoms and signs are described, especially ichthyosis, spastic diplegia, and severe learning difficulties; but also other less frequent ones. Special ...

Last Updated: 31 Dec 1969

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Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
 

Author(s): William B Rizzo

Journal: Mol. Genet. Metab.. 2007 Jan;90(1):1-9.

 

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase (FALDH), an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. Affected patients display ichthyosis, mental retardation ...

Last Updated: 31 Dec 1969

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MR of the brain in Sjögren-Larsson syndrome.
 

Author(s): F Van Mieghem, J W Van Goethem, P M Parizel, L van den Hauwe, P Cras, J De Meirleire, A M De Schepper

Journal: AJNR Am J Neuroradiol. 1997 Sep;18(8):1561-3.

 

Cerebral MR was performed in three patients with Sjögren-Larsson syndrome. In each case, a 1.5-T system was used, and the patient was under general anesthesia. The MR findings included confluent hyperintense white matter lesions in the periventricular and deep white matter of the ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 17 Aug 2018

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Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
 

Status: Recruiting

Condition Summary: Sjogren-Larsson Syndrome (SLS)

 

Last Updated: 5 Feb 2018

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