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Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.

Pediatric neurology - 1 Jun 2012

Koy Anne, Pillekamp Frank, Hoehn Thomas, Waterham Hans, Klee Dirk, Mayatepek Ertan, Assmann Birgit

Abstract excerpt

Brown-Vialetto-Van Laere syndrome (Online Mendelian Inheritance in Man number 211530) is a neurodegenerative disorder characterized by pontobulbar palsy affecting cranial nerves (mainly VII-XII). Sensorineural deafness is often the leading sign, followed by other neurologic signs. Inheritance is often autosomal recessive, with mutations in the C20orf54 gene (Online Mendelian Inheritance in Man number 613350)....

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PMID: 22633641
DOI: 10.1016/j.pediatrneurol.2012.03.008

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Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.PMID 22633641Read ↗

Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.Semantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.Semantic proximity Read ↗

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Autosomal Dominant Brown-Vialetto-Van Laere Syndrome: A New Case and Systematic Review of a Treatable Neurometabolic DisorderSemantic proximity Read ↗

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.Semantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.Semantic proximity Read ↗

Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.Semantic proximity Read ↗

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.Semantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.Semantic proximity Read ↗

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