Clinical and genetic characteristics in patients with Huntington's Disease from Argentina

Autores
Gatto, Emilia Mabel; Parisi, Virginia; Persi, Gabriel; Converso, Daniela Paola; Etcheverry, José Luis; Varela, Viviana; Alba, Liliana; Fretchel, Gustavo
Año de publicación
2012
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnosed with a mean age of 45.7±16.2years and a mean age at onset of 35.8±14.8years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r=-0.58, r 2=33.6, Pearson's correlation coefficient p=0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina. Sanatorio de La Trinidad Mitre; Argentina
Fil: Parisi, Virginia. Sanatorio de La Trinidad Mitre; Argentina
Fil: Persi, Gabriel. Sanatorio de La Trinidad Mitre; Argentina
Fil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Etcheverry, José Luis. Instituto de Neurociencias Buenos Aires S. A.; Argentina
Fil: Varela, Viviana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Alba, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Fretchel, Gustavo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Materia
Chorea
Demographic
Familial Chorea
Huntington'S Disease
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/67359
Acceder
id CONICETDig_ec512b77a3426dad2154e3723fdfbe3f
oai_identifier_str oai:ri.conicet.gov.ar:11336/67359
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Clinical and genetic characteristics in patients with Huntington's Disease from ArgentinaGatto, Emilia MabelParisi, VirginiaPersi, GabrielConverso, Daniela PaolaEtcheverry, José LuisVarela, VivianaAlba, LilianaFretchel, GustavoChoreaDemographicFamilial ChoreaHuntington'S Diseasehttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnosed with a mean age of 45.7±16.2years and a mean age at onset of 35.8±14.8years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r=-0.58, r 2=33.6, Pearson's correlation coefficient p=0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina. Sanatorio de La Trinidad Mitre; ArgentinaFil: Parisi, Virginia. Sanatorio de La Trinidad Mitre; ArgentinaFil: Persi, Gabriel. Sanatorio de La Trinidad Mitre; ArgentinaFil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Etcheverry, José Luis. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: Varela, Viviana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Alba, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Fretchel, Gustavo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaElsevier2012-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/67359Gatto, Emilia Mabel; Parisi, Virginia; Persi, Gabriel; Converso, Daniela Paola; Etcheverry, José Luis; et al.; Clinical and genetic characteristics in patients with Huntington's Disease from Argentina; Elsevier; Parkinsonism & Related Disorders; 18; 2; 2-2012; 166-1691353-8020CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1353802011003087info:eu-repo/semantics/altIdentifier/doi/10.1016/j.parkreldis.2011.09.011info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:58:10Zoai:ri.conicet.gov.ar:11336/67359instacron: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 09:58:10.569CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
title Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
spellingShingle Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
Gatto, Emilia Mabel
Chorea
Demographic
Familial Chorea
Huntington'S Disease
title_short Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
title_full Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
title_fullStr Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
title_full_unstemmed Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
title_sort Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
dc.creator.none.fl_str_mv Gatto, Emilia Mabel
Parisi, Virginia
Persi, Gabriel
Converso, Daniela Paola
Etcheverry, José Luis
Varela, Viviana
Alba, Liliana
Fretchel, Gustavo
author Gatto, Emilia Mabel
author_facet Gatto, Emilia Mabel
Parisi, Virginia
Persi, Gabriel
Converso, Daniela Paola
Etcheverry, José Luis
Varela, Viviana
Alba, Liliana
Fretchel, Gustavo
author_role author
author2 Parisi, Virginia
Persi, Gabriel
Converso, Daniela Paola
Etcheverry, José Luis
Varela, Viviana
Alba, Liliana
Fretchel, Gustavo
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Chorea
Demographic
Familial Chorea
Huntington'S Disease
topic Chorea
Demographic
Familial Chorea
Huntington'S Disease
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnosed with a mean age of 45.7±16.2years and a mean age at onset of 35.8±14.8years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r=-0.58, r 2=33.6, Pearson's correlation coefficient p=0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina. Sanatorio de La Trinidad Mitre; Argentina
Fil: Parisi, Virginia. Sanatorio de La Trinidad Mitre; Argentina
Fil: Persi, Gabriel. Sanatorio de La Trinidad Mitre; Argentina
Fil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Etcheverry, José Luis. Instituto de Neurociencias Buenos Aires S. A.; Argentina
Fil: Varela, Viviana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Alba, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Fretchel, Gustavo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
description Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnosed with a mean age of 45.7±16.2years and a mean age at onset of 35.8±14.8years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r=-0.58, r 2=33.6, Pearson's correlation coefficient p=0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.
publishDate 2012
dc.date.none.fl_str_mv 2012-02
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/11336/67359
Gatto, Emilia Mabel; Parisi, Virginia; Persi, Gabriel; Converso, Daniela Paola; Etcheverry, José Luis; et al.; Clinical and genetic characteristics in patients with Huntington's Disease from Argentina; Elsevier; Parkinsonism & Related Disorders; 18; 2; 2-2012; 166-169
1353-8020
CONICET Digital
CONICET
url http://hdl.handle.net/11336/67359
identifier_str_mv Gatto, Emilia Mabel; Parisi, Virginia; Persi, Gabriel; Converso, Daniela Paola; Etcheverry, José Luis; et al.; Clinical and genetic characteristics in patients with Huntington's Disease from Argentina; Elsevier; Parkinsonism & Related Disorders; 18; 2; 2-2012; 166-169
1353-8020
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1353802011003087
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.parkreldis.2011.09.011
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
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_ 1842269505130070016
score 12.885934

Publicaciones similares