Marinesco-Sjogren syndrome

Common Name(s)

Marinesco-Sjogren syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Marinesco-Sjogren Syndrome Support Group

Our mission is to provide support to families of people with MSS, expand our network of MSS families, and promote research leading to better diagnosis and eventually a treatment for MSS.

http://www.marinesco-sjogren.org

Last Updated: 16 Oct 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Marinesco-Sjogren Syndrome Support Group

Our mission is to provide support to families of people with MSS, expand our network of MSS families, and promote research leading to better diagnosis and eventually a treatment for MSS.

http://www.marinesco-sjogren.org

Last Updated: 16 Oct 2012

View Details

 

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 "Marinesco-Sjogren syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.
 

Author(s): Jennifer Howes, Yuichiro Shimizu, Matthias J Feige, Linda M Hendershot

Journal: J. Biol. Chem.. 2012 Mar;287(11):8552-60.

 

Marinesco-Sjögren syndrome (MSS) is an autosomal recessive, neurodegenerative, multisystem disorder characterized by severe phenotypes developing in infancy. Recently, mutations in the endoplasmic reticulum (ER)-associated co-chaperone SIL1/BAP were identified to be the major cause ...

Last Updated: 12 Mar 2012

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A case of Marinesco-Sjögren syndrome: MRI observations of skeletal muscles, bone metabolism, and treatment with testosterone and risedronate.
 

Author(s): Junko Fujitake, Yasato Komatsu, Yuji Hataya, Atsuko Nishikawa, Makoto Eriguchi, Haruo Mizuta, Michiyuki Hayashi

Journal: Intern. Med.. 2011 ;50(2):145-9.

 

Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder characterized by cerebellar ataxia, congenital cataracts, mental retardation, primary hypogonadism, skeletal abnormalities and myopathy, and patients with MSS are considered to be at risk of falls and bone fractures. ...

Last Updated: 19 Jan 2011

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Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
 

Author(s): Anna-Kaisa Anttonen, Eija Siintola, Lisbeth Tranebjaerg, Nobue K Iwata, Emilia K Bijlsma, Hiroyuki Meguro, Yaeko Ichikawa, Jun Goto, Outi Kopra, Anna-Elina Lehesjoki

Journal: Eur. J. Hum. Genet.. 2008 Aug;16(8):961-9.

 

Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited neurodegenerative disorder characterized by cerebellar ataxia, cataracts, mental retardation, and progressive myopathy. Recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum (ER) resident ...

Last Updated: 24 Jul 2008

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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 "Marinesco-Sjogren syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.
 

Author(s): Anke Reinhold, Ianina Scheer, Rüdiger Lehmann, Luitgard M Neumann, Theodor Michael, Raymonda Varon, Arpad Von Moers

Journal: AJNR Am J Neuroradiol. 2003 May;24(5):825-8.

 

Cerebellar atrophy is considered the most prominent neuroradiologic finding in Marinesco-Sjögren syndrome (MSS). Our purpose was to investigate this neuroradiologic feature in a series of patients with MSS.

Last Updated: 15 May 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.