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.
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.
Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide.
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.
Jeremy Schmahmann is a Neurologist in Boston, Massachusetts. Schmahmann has been practicing medicine for over 43 years and is rated as an Elite expert by MediFind in the treatment of Marinesco Sjogren Syndrome. He is also highly rated in 52 other conditions, according to our data. His top areas of expertise are Acute Cerebellar Ataxia, Spinocerebellar Ataxia, Olivopontocerebellar Atrophy, and Drug Induced Dyskinesia. He is licensed to treat patients in Massachusetts. Schmahmann is currently accepting new patients.
Alexandra Durr practices in Paris, France. Durr is rated as an Elite expert by MediFind in the treatment of Marinesco Sjogren Syndrome. She is also highly rated in 54 other conditions, according to our data. Her top areas of expertise are Huntington Disease, Spinocerebellar Ataxia, Drug Induced Dyskinesia, and Olivopontocerebellar Atrophy.
Jose Pedroso practices in São Paulo, Brazil. Pedroso is rated as an Elite expert by MediFind in the treatment of Marinesco Sjogren Syndrome. He is also highly rated in 66 other conditions, according to our data. His top areas of expertise are Olivopontocerebellar Atrophy, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia, and Drug Induced Dyskinesia.
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.
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.
Published Date: February 01, 2015Published By: National Institutes of Health