Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

Chiara Cerami; Patrizia Tarantino; Chiara Cupidi; Grazia Annesi; Vincenzina Lo Re; Monica Gagliardi; Tommaso Piccoli; Aldo Quattrone

doi:10.1016/j.jns.2015.04.026

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

J Neurol Sci. 2015 Jul 15;354(1-2):112-3. doi: 10.1016/j.jns.2015.04.026. Epub 2015 Apr 24.

Authors

Chiara Cerami¹, Patrizia Tarantino², Chiara Cupidi³, Grazia Annesi², Vincenzina Lo Re³, Monica Gagliardi⁴, Tommaso Piccoli³, Aldo Quattrone⁴

Affiliations

¹ Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy. Electronic address: cerami.chiara@hsr.it.
² Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
³ Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy.
⁴ Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Aurgi Sciences, University Magna Graecia, Catanzaro, Italy.

PMID: 25982182
DOI: 10.1016/j.jns.2015.04.026

No abstract available

Keywords: Autosomal recessive cerebellar ataxias; Cerebellar atrophy; Early-onset cataracts; Marinesco–Sjögren Syndrome; Mental retardation; SIL1 gene.

Publication types

Case Reports
Letter

MeSH terms

Adult
Female
Frameshift Mutation / genetics*
Guanine Nucleotide Exchange Factors / genetics*
Humans
Male
Pedigree
Spinocerebellar Degenerations / diagnosis*
Spinocerebellar Degenerations / genetics*

Substances

Guanine Nucleotide Exchange Factors
SIL1 protein, human