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

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 met...

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Autor principal:	Converso, Daniela Paola
Publicado:	2012
Materias:	Chorea Demographic Familial chorea Huntington's Disease amantadine antidepressant agent olanzapine serotonin uptake inhibitor ubidecarenone adolescent adult aged allele Argentina article CAG repeat child controlled study female genetic analysis human Huntington chorea hyperkinesia inheritance interview major clinical study male neurologic examination onset age priority journal school child Adolescent Adult Aged Child Female Humans Huntington Disease Male Middle Aged Trinucleotide Repeats Young Adult
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_13538020_v18_n2_p166_Gatto http://hdl.handle.net/20.500.12110/paper_13538020_v18_n2_p166_Gatto
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_13538020_v18_n2_p166_Gatto
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spelling	paper:paper_13538020_v18_n2_p166_Gatto2023-06-08T16:11:04Z Clinical and genetic characteristics in patients with Huntington's Disease from Argentina Converso, Daniela Paola Chorea Demographic Familial chorea Huntington's Disease amantadine antidepressant agent olanzapine serotonin uptake inhibitor ubidecarenone adolescent adult aged allele Argentina article CAG repeat child controlled study female genetic analysis human Huntington chorea hyperkinesia inheritance interview major clinical study male neurologic examination onset age priority journal school child Adolescent Adult Aged Argentina Child Female Humans Huntington Disease Male Middle Aged Trinucleotide Repeats Young Adult 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. © 2011 Elsevier Ltd. Fil:Converso, D.P. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2012 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_13538020_v18_n2_p166_Gatto http://hdl.handle.net/20.500.12110/paper_13538020_v18_n2_p166_Gatto
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	Chorea Demographic Familial chorea Huntington's Disease amantadine antidepressant agent olanzapine serotonin uptake inhibitor ubidecarenone adolescent adult aged allele Argentina article CAG repeat child controlled study female genetic analysis human Huntington chorea hyperkinesia inheritance interview major clinical study male neurologic examination onset age priority journal school child Adolescent Adult Aged Argentina Child Female Humans Huntington Disease Male Middle Aged Trinucleotide Repeats Young Adult
spellingShingle	Chorea Demographic Familial chorea Huntington's Disease amantadine antidepressant agent olanzapine serotonin uptake inhibitor ubidecarenone adolescent adult aged allele Argentina article CAG repeat child controlled study female genetic analysis human Huntington chorea hyperkinesia inheritance interview major clinical study male neurologic examination onset age priority journal school child Adolescent Adult Aged Argentina Child Female Humans Huntington Disease Male Middle Aged Trinucleotide Repeats Young Adult Converso, Daniela Paola Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
topic_facet	Chorea Demographic Familial chorea Huntington's Disease amantadine antidepressant agent olanzapine serotonin uptake inhibitor ubidecarenone adolescent adult aged allele Argentina article CAG repeat child controlled study female genetic analysis human Huntington chorea hyperkinesia inheritance interview major clinical study male neurologic examination onset age priority journal school child Adolescent Adult Aged Argentina Child Female Humans Huntington Disease Male Middle Aged Trinucleotide Repeats Young Adult
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. © 2011 Elsevier Ltd.
author	Converso, Daniela Paola
author_facet	Converso, Daniela Paola
author_sort	Converso, Daniela Paola
title	Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
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
publishDate	2012
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_13538020_v18_n2_p166_Gatto http://hdl.handle.net/20.500.12110/paper_13538020_v18_n2_p166_Gatto
work_keys_str_mv	AT conversodanielapaola clinicalandgeneticcharacteristicsinpatientswithhuntingtonsdiseasefromargentina
_version_	1768543912721383424

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

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