Juvenile Huntington disease in Argentina.
Arq Neuropsiquiatr
; 74(1): 50-4, 2016 Jan.
Article
em En
| MEDLINE
| ID: mdl-26602194
We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Comportamento Infantil
/
Doença de Huntington
/
Transtornos Cognitivos
/
Transtornos dos Movimentos
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Argentina
Idioma:
En
Revista:
Arq Neuropsiquiatr
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Argentina
País de publicação:
Alemanha