Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

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

doi:10.1016/j.ajhg.2010.02.006

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

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

Research output: Contribution to journal › Article › peer-review

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. © 2010 The American Society of Human Genetics.

Original language	English
Pages (from-to)	485-489
Number of pages	4
Journal	American Journal of Human Genetics
Volume	86
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2010.02.006
Publication status	Published - 2010

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title = "Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54",

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. {\textcopyright} 2010 The American Society of Human Genetics.",

author = "Peter Green and Matthew Wiseman and Crow, {Yanick J.} and Henry Houlden and Shelley Riphagen and Lin, {Jean Pierre} and Raymond, {F. Lucy} and Childs, {Anne Marie} and Eamonn Sheridan and Sian Edwards and Josifova, {Dragana J.}",

year = "2010",

doi = "10.1016/j.ajhg.2010.02.006",

language = "English",

volume = "86",

pages = "485--489",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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TY - JOUR

T1 - Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

AU - Green, Peter

AU - Wiseman, Matthew

AU - Crow, Yanick J.

AU - Houlden, Henry

AU - Riphagen, Shelley

AU - Lin, Jean Pierre

AU - Raymond, F. Lucy

AU - Childs, Anne Marie

AU - Sheridan, Eamonn

AU - Edwards, Sian

AU - Josifova, Dragana J.

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

U2 - 10.1016/j.ajhg.2010.02.006

DO - 10.1016/j.ajhg.2010.02.006

M3 - Article

C2 - 20206331

SN - 0002-9297

VL - 86

SP - 485

EP - 489

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

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