Doença de Huntington juvenil na Argentina

Translated title of the contribution: Juvenile Huntington disease in Argentina

Emilia Mabel Gatto, Virginia Parisi, José Luis Etcheverry, Ana Sanguinetti, Lorena Cordi, Adrian Binelli, Gabriel Persi, Ferdinando Squitieri

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Translated title of the contributionJuvenile Huntington disease in Argentina
Original languagePortuguese
Pages (from-to)50-54
Number of pages5
JournalArquivos de Neuro-Psiquiatria
Volume74
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

Keywords

  • Chorea
  • Genetics
  • Huntington disease prevalence
  • Juvenile Huntington disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Biological Psychiatry

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