Article
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.
Neurogenetics - 1 Oct 2015
Noreau Anne, La Piana Roberta, Marcoux Camille, Dion Patrick A, Brais Bernard, Bernard Geneviève, Rouleau Guy A
Abstract excerpt
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...
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