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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autor principal: Converso, Daniela Paola
Publicado: 2012
Materias:
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:
id paper:paper_13538020_v18_n2_p166_Gatto
record_format dspace
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