Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene

Autores
Rossi, Malco Damián; Medina Escobar, Alex; Radrizzani Helguera, Martin; Tenembaum, Silvia; Perandones, Claudia; Merello, Marcelo Jorge
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Autosomal‐dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase γ (POLG), which results in heterogeneous clinical phenotypes associated with progressive external ophthalmoplegia, including myoclonic epilepsy,1 parkinsonism,2 and ataxia3 (Table 1). Other additional features may include premature ovarian failure and hypogonadism.2 POLG mutations causing adPEO1 can have both autosomal‐dominant or ‐recessive inheritance traits.4 Dystonia has been observed in patients with POLG mutations,5-7 however, to our knowledge, not in adPEO1. Here, we describe the first adPEO1 patient attributed to a POLG mutation showing dystonia as the presenting and core clinical feature.
Fil: Rossi, Malco Damián. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Medina Escobar, Alex. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Radrizzani Helguera, Martin. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de San Martín. Escuela de Ciencia y Tecnología; Argentina
Fil: Tenembaum, Silvia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Perandones, Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”; Argentina
Fil: Merello, Marcelo Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Materia
Dystonia
Autosomal
Ophthalmoplegia
Polg Gene
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:11336/72194
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG GeneRossi, Malco DamiánMedina Escobar, AlexRadrizzani Helguera, MartinTenembaum, SilviaPerandones, ClaudiaMerello, Marcelo JorgeDystoniaAutosomalOphthalmoplegiaPolg Genehttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Autosomal‐dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase γ (POLG), which results in heterogeneous clinical phenotypes associated with progressive external ophthalmoplegia, including myoclonic epilepsy,1 parkinsonism,2 and ataxia3 (Table 1). Other additional features may include premature ovarian failure and hypogonadism.2 POLG mutations causing adPEO1 can have both autosomal‐dominant or ‐recessive inheritance traits.4 Dystonia has been observed in patients with POLG mutations,5-7 however, to our knowledge, not in adPEO1. Here, we describe the first adPEO1 patient attributed to a POLG mutation showing dystonia as the presenting and core clinical feature.Fil: Rossi, Malco Damián. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Medina Escobar, Alex. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Radrizzani Helguera, Martin. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de San Martín. Escuela de Ciencia y Tecnología; ArgentinaFil: Tenembaum, Silvia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Perandones, Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”; ArgentinaFil: Merello, Marcelo Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaWiley2017-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/72194Rossi, Malco Damián; Medina Escobar, Alex; Radrizzani Helguera, Martin; Tenembaum, Silvia; Perandones, Claudia; et al.; Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene; Wiley; Movement Disorders Clinical Practice; 4; 2; 3-2017; 266-2692330-1619CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.12397info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12397info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:08:13Zoai:ri.conicet.gov.ar:11336/72194instacron: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 10:08:14.289CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
title Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
spellingShingle Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
Rossi, Malco Damián
Dystonia
Autosomal
Ophthalmoplegia
Polg Gene
title_short Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
title_full Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
title_fullStr Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
title_full_unstemmed Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
title_sort Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
dc.creator.none.fl_str_mv Rossi, Malco Damián
Medina Escobar, Alex
Radrizzani Helguera, Martin
Tenembaum, Silvia
Perandones, Claudia
Merello, Marcelo Jorge
author Rossi, Malco Damián
author_facet Rossi, Malco Damián
Medina Escobar, Alex
Radrizzani Helguera, Martin
Tenembaum, Silvia
Perandones, Claudia
Merello, Marcelo Jorge
author_role author
author2 Medina Escobar, Alex
Radrizzani Helguera, Martin
Tenembaum, Silvia
Perandones, Claudia
Merello, Marcelo Jorge
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Dystonia
Autosomal
Ophthalmoplegia
Polg Gene
topic Dystonia
Autosomal
Ophthalmoplegia
Polg Gene
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Autosomal‐dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase γ (POLG), which results in heterogeneous clinical phenotypes associated with progressive external ophthalmoplegia, including myoclonic epilepsy,1 parkinsonism,2 and ataxia3 (Table 1). Other additional features may include premature ovarian failure and hypogonadism.2 POLG mutations causing adPEO1 can have both autosomal‐dominant or ‐recessive inheritance traits.4 Dystonia has been observed in patients with POLG mutations,5-7 however, to our knowledge, not in adPEO1. Here, we describe the first adPEO1 patient attributed to a POLG mutation showing dystonia as the presenting and core clinical feature.
Fil: Rossi, Malco Damián. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Medina Escobar, Alex. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Radrizzani Helguera, Martin. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de San Martín. Escuela de Ciencia y Tecnología; Argentina
Fil: Tenembaum, Silvia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Perandones, Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”; Argentina
Fil: Merello, Marcelo Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
description Autosomal‐dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase γ (POLG), which results in heterogeneous clinical phenotypes associated with progressive external ophthalmoplegia, including myoclonic epilepsy,1 parkinsonism,2 and ataxia3 (Table 1). Other additional features may include premature ovarian failure and hypogonadism.2 POLG mutations causing adPEO1 can have both autosomal‐dominant or ‐recessive inheritance traits.4 Dystonia has been observed in patients with POLG mutations,5-7 however, to our knowledge, not in adPEO1. Here, we describe the first adPEO1 patient attributed to a POLG mutation showing dystonia as the presenting and core clinical feature.
publishDate 2017
dc.date.none.fl_str_mv 2017-03
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/11336/72194
Rossi, Malco Damián; Medina Escobar, Alex; Radrizzani Helguera, Martin; Tenembaum, Silvia; Perandones, Claudia; et al.; Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene; Wiley; Movement Disorders Clinical Practice; 4; 2; 3-2017; 266-269
2330-1619
CONICET Digital
CONICET
url http://hdl.handle.net/11336/72194
identifier_str_mv Rossi, Malco Damián; Medina Escobar, Alex; Radrizzani Helguera, Martin; Tenembaum, Silvia; Perandones, Claudia; et al.; Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene; Wiley; Movement Disorders Clinical Practice; 4; 2; 3-2017; 266-269
2330-1619
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.12397
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12397
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
application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
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
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score 13.13397

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