Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2811575 | The American Journal of Human Genetics | 2010 | 5 Pages |
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.
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Authors
Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean-Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana J. Josifova,