Learn About Marinesco Sjogren Syndrome

What is the definition of Marinesco Sjogren Syndrome?

Marinesco-Sjögren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjögren syndrome may experience further decline in muscle function later in life.

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What are the causes of Marinesco Sjogren Syndrome?

Mutations in the SIL1 gene cause Marinesco-Sjögren syndrome. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape. The SIL1 protein plays a role in the process of protein folding.

How prevalent is Marinesco Sjogren Syndrome?

Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide.

Is Marinesco Sjogren Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the latest Marinesco Sjogren Syndrome Clinical Trials?
Using Real-time Functional Magnetic Resonance Imaging (fMRI) Neurofeedback and Motor Imagery to Enhance Motor Timing and Precision in Cerebellar Ataxia

Summary: The aim of the research is to improve motor function in people with cerebellar ataxia by using neuroimaging methods and mental imagery to exercise motor networks in the brain. The relevance of this research to public health is that results have the potential to reduce motor deficits associated with cerebellar atrophy, thereby enhancing the quality of life and promoting independence.

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A Phase 1, Blinded, Randomized, Placebo-controlled Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Multiple Ascending Doses of BIIB132 Administered Intrathecally to Adults With Spinocerebellar Ataxia 3

Summary: The primary objective of this study is to evaluate the safety and tolerability of multiple ascending doses of BIIB132 administered via intrathecal (IT) injection to participants with spinocerebellar ataxia type 3 (SCA3). The secondary objective of this study is to characterize the multiple-dose pharmacokinetics (PK) of BIIB132 administered via IT injection to participants with SCA3.

Who are the sources who wrote this article ?

Published Date: February 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Marinesco Sjogren Syndrome?
Effectiveness of functional trunk training on trunk control and upper limb functions in patients with autosomal recessive hereditary ataxia.
Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials.
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