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- DOI: 10.1016/j.ajhg.2010.02.006
- PMID: 20206331
- UKPMCID: 20206331
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Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54.
Green, Peter; Wiseman, Matthew; Crow, Yanick J; Houlden, Henry; Riphagen, Shelley; Lin, Jean-Pierre; Raymond, F Lucy; Childs, Anne-Marie; Sheridan, Eamonn; Edwards, Sian; Josifova, Dragana J
American journal of human genetics. 2010;86(3):485-489.
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Full-text held externally
- DOI: 10.1016/j.ajhg.2010.02.006
- PMID: 20206331
- UKPMCID: 20206331
Abstract
Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families.