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Article

SYNE1 mutations in autosomal recessive cerebellar ataxia.

JAMA neurology - 1 Oct 2013

Noreau Anne, Bourassa Cynthia V, Szuto Anna, Levert Annie, Dobrzeniecka Sylvia, Gauthier Julie, Forlani Sylvie, Durr Alexandra, Anheim Mathieu, Stevanin Giovanni, Brice Alexis, Bouchard Jean-Pierre, Dion Patrick A, Dupré Nicolas, Rouleau Guy A

Abstract excerpt

IMPORTANCE: Autosomal recessive cerebellar ataxia type I, also known as recessive ataxia of Beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging. Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene, located on chromosome 6p25, were first reported in patients who...

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PMID: 23959263
DOI: 10.1001/jamaneurol.2013.3268

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