Green P.,Kings College London |
Wiseman M.,Kings College London |
Crow Y.J.,University of Manchester |
Houlden H.,University College London |
And 7 more authors.
American Journal of Human Genetics
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. © 2010 The American Society of Human Genetics. Source