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Neurogenetics
Published in: neurogenetics 4/2015

01-10-2015 | Original Article

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

Authors: Anne Noreau, Roberta La Piana, Camille Marcoux, Patrick A. Dion, Bernard Brais, Geneviève Bernard, Guy A. Rouleau, FORGE Canada

Published in: Neurogenetics | Issue 4/2015

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Abstract

Two French-Canadian sibs with cerebellar ataxia and dysarthria were seen in our neurogenetics clinic. The older brother had global developmental delay and spastic paraplegia. Brain MRIs from these two affected individuals showed moderate to severe cerebellar atrophy. To identify the genetic basis for their disease, we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected sibs and their healthy father. We identified two mutations in the SIL1 gene, which is reported to cause Marinesco-Sjögren syndrome. This study emphasizes how the diagnosis of patients with ataxic gait and cerebellar atrophy may benefit from WES to identify the genetic cause of their condition.
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Metadata
Title
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family
Authors
Anne Noreau
Roberta La Piana
Camille Marcoux
Patrick A. Dion
Bernard Brais
Geneviève Bernard
Guy A. Rouleau
FORGE Canada
Publication date
01-10-2015
Publisher
Springer Berlin Heidelberg
Published in
Neurogenetics / Issue 4/2015
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-015-0455-z

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