Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations

Autores
Córdoba, Marta; Rodríguez Quiroga, Sergio; Gatto, Emilia Mabel; Alurralde, Agustín; Kauffman, Marcelo Andres
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
More than 1,000 mutations mapping to 60 different loci have been recognized as the cause of hereditary ataxias. However, almost 50% of the cases are still genetically uncharacterized, with etiology remaining to be identified.1 Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next generation sequencing technologies.2 In order to expand the phenotype recently described in ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of ataxias, we present a 23-year-old patient who had ataxia plus myoclonus in whom exome sequencing revealed novel compound heterozygous mutations in the STUB1 gene.
Fil: Córdoba, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Rodríguez Quiroga, Sergio. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina
Fil: Alurralde, Agustín. Hospital Caleta Olivia; Argentina
Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Materia
Stub1
Ataxia
Exome Sequencing
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/17280
Acceder
id CONICETDig_749ec2ea1b7da1422bd94e4fbc81634f
oai_identifier_str oai:ri.conicet.gov.ar:11336/17280
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutationsCórdoba, MartaRodríguez Quiroga, SergioGatto, Emilia MabelAlurralde, AgustínKauffman, Marcelo AndresStub1AtaxiaExome Sequencinghttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3More than 1,000 mutations mapping to 60 different loci have been recognized as the cause of hereditary ataxias. However, almost 50% of the cases are still genetically uncharacterized, with etiology remaining to be identified.1 Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next generation sequencing technologies.2 In order to expand the phenotype recently described in ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of ataxias, we present a 23-year-old patient who had ataxia plus myoclonus in whom exome sequencing revealed novel compound heterozygous mutations in the STUB1 gene.Fil: Córdoba, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Rodríguez Quiroga, Sergio. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: Alurralde, Agustín. Hospital Caleta Olivia; ArgentinaFil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaLippincott Williams2014-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/17280Córdoba, Marta; Rodríguez Quiroga, Sergio; Gatto, Emilia Mabel; Alurralde, Agustín; Kauffman, Marcelo Andres; Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations; Lippincott Williams; Neurology; 83; 3; 7-2014; 287-2880028-3878enginfo:eu-repo/semantics/altIdentifier/doi/10.​1212/​WNL.​0000000000000600info:eu-repo/semantics/altIdentifier/url/http://www.neurology.org/content/83/3/287.shortinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:06:19Zoai:ri.conicet.gov.ar:11336/17280instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:06:20.02CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
title Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
spellingShingle Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
Córdoba, Marta
Stub1
Ataxia
Exome Sequencing
title_short Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
title_full Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
title_fullStr Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
title_full_unstemmed Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
title_sort Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
dc.creator.none.fl_str_mv Córdoba, Marta
Rodríguez Quiroga, Sergio
Gatto, Emilia Mabel
Alurralde, Agustín
Kauffman, Marcelo Andres
author Córdoba, Marta
author_facet Córdoba, Marta
Rodríguez Quiroga, Sergio
Gatto, Emilia Mabel
Alurralde, Agustín
Kauffman, Marcelo Andres
author_role author
author2 Rodríguez Quiroga, Sergio
Gatto, Emilia Mabel
Alurralde, Agustín
Kauffman, Marcelo Andres
author2_role author
author
author
author
dc.subject.none.fl_str_mv Stub1
Ataxia
Exome Sequencing
topic Stub1
Ataxia
Exome Sequencing
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv More than 1,000 mutations mapping to 60 different loci have been recognized as the cause of hereditary ataxias. However, almost 50% of the cases are still genetically uncharacterized, with etiology remaining to be identified.1 Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next generation sequencing technologies.2 In order to expand the phenotype recently described in ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of ataxias, we present a 23-year-old patient who had ataxia plus myoclonus in whom exome sequencing revealed novel compound heterozygous mutations in the STUB1 gene.
Fil: Córdoba, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Rodríguez Quiroga, Sergio. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina
Fil: Alurralde, Agustín. Hospital Caleta Olivia; Argentina
Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
description More than 1,000 mutations mapping to 60 different loci have been recognized as the cause of hereditary ataxias. However, almost 50% of the cases are still genetically uncharacterized, with etiology remaining to be identified.1 Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next generation sequencing technologies.2 In order to expand the phenotype recently described in ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of ataxias, we present a 23-year-old patient who had ataxia plus myoclonus in whom exome sequencing revealed novel compound heterozygous mutations in the STUB1 gene.
publishDate 2014
dc.date.none.fl_str_mv 2014-07
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/17280
Córdoba, Marta; Rodríguez Quiroga, Sergio; Gatto, Emilia Mabel; Alurralde, Agustín; Kauffman, Marcelo Andres; Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations; Lippincott Williams; Neurology; 83; 3; 7-2014; 287-288
0028-3878
url http://hdl.handle.net/11336/17280
identifier_str_mv Córdoba, Marta; Rodríguez Quiroga, Sergio; Gatto, Emilia Mabel; Alurralde, Agustín; Kauffman, Marcelo Andres; Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations; Lippincott Williams; Neurology; 83; 3; 7-2014; 287-288
0028-3878
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.​1212/​WNL.​0000000000000600
info:eu-repo/semantics/altIdentifier/url/http://www.neurology.org/content/83/3/287.short
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Lippincott Williams
publisher.none.fl_str_mv Lippincott Williams
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842269953499070464
score 13.13397

Publicaciones similares