Abstract
Background: Marinesco-Sjögren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene. Methods: The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjögren syndrome are described and compared to the literature on genetically proven Marinesco-Sjögren patients. Results: The core phenotype of this syndrome appears homogeneous, but: [1] cataract can develop later than the motor and cognitive signs; [2] myopathy is an early feature that seems progressive during the course of the disease; [3] serum creatine kinase is normal or only mildly elevated; [4] peripheral neuropathy is absent; and [5] a variable degree of intellectual disability is present in most Marinesco-Sjögren patients. Conclusions: Because the late appearance of some hallmarks and the uncertainty as to whether incomplete phenotypes occur, SIL1 mutation analysis is helpful early in the diagnostic work-up of children with suspected inherited ataxias.
Original language | English (US) |
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Pages (from-to) | 199-203 |
Number of pages | 5 |
Journal | European Journal of Paediatric Neurology |
Volume | 17 |
Issue number | 2 |
DOIs | |
State | Published - Mar 2013 |
Keywords
- Clinical features
- Marinesco-Sjögren syndrome
- SIL1 mutation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology