uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Clinical and MRI evaluation of Marinesco-Sjögren syndrome with a 21-year-follow-up and a description of a mild form of the disease
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
Institute of Clinical Sciences at Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
(English)Manuscript (preprint) (Other academic)
Abstract [en]

Marinesco-Sjögren syndrome is a rare autosomal recessive disorder caused by a mutation in the SIL-1 gene and traditionally characterized by cerebellar ataxia, childhood cataracts, progressive myopathy, and developmental delay. We studied three patients with genetically confirmed disease with MRI of the brain and musculature. Muscle MRI findings were quantified calculating muscle / fat signal intensity ratios and compared to those  in five controls. Two of the patients had a 21-year-long clinical follow-up. We found a slowly progressive atrophy of the cerebellum and brainstem over a timespan of 19 years, but the signal intensity changes in the cerebellar cortex were stable. MRI of the leg musculature at 4 years of age showed  atrophy and fatty infiltration of the anterior thighs and posterior calves. Whole body MRI  at 20 years of age revealed progression of the changes in the legs and confirmed the previously published CT findings demonstrating changes in many muscles in adults. The third patient had an unusual, mild, phenotype with no intellectual disability and relatively slight motor disability. Only the upper cerebellum was abnormal on brain MRI and the muscles were much less severely affected at age 27 than in the other patients at age 20. Muscle MRI revealed no signs of active inflammation in any patient. In conclusion, long-term follow-up reveals slowly progressive atrophy in the cerebellum and brain stem in Marinesco-Sjögren syndrome. The phenotypical spectrum of this  syndrome also includes mild forms with no intellectual disability, relatively slight motor disability and less MRI abnormalities. 

National Category
Radiology, Nuclear Medicine and Medical Imaging
Identifiers
URN: urn:nbn:se:uu:diva-303168OAI: oai:DiVA.org:uu-303168DiVA: diva2:970978
Available from: 2016-09-15 Created: 2016-09-15 Last updated: 2016-09-15

Open Access in DiVA

No full text

By organisation
RadiologyNeurology
Radiology, Nuclear Medicine and Medical Imaging

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

ReferencesLink to record
Permanent link

Direct link