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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(01): 50-54
DOI: 10.1590/0004-282X20150192
Article

Juvenile Huntington disease in Argentina

Doença de Huntington juvenil na Argentina
Emilia Mabel Gatto
1   Instituto Neurociencias de Buenos Aires (INEBA), Departamento de Movimientos Anormales, Buenos Aires, Argentina;
2   Sanatorio de la Trinidad Mitre, Departamento de Neurología, Buenos Aires, Argentina;
,
Virginia Parisi
2   Sanatorio de la Trinidad Mitre, Departamento de Neurología, Buenos Aires, Argentina;
,
José Luis Etcheverry
1   Instituto Neurociencias de Buenos Aires (INEBA), Departamento de Movimientos Anormales, Buenos Aires, Argentina;
,
Ana Sanguinetti
1   Instituto Neurociencias de Buenos Aires (INEBA), Departamento de Movimientos Anormales, Buenos Aires, Argentina;
,
Lorena Cordi
3   Hospital Pedro de Elizalde, Departamento de Neuropediatría, Buenos Aires, Argentina;
,
Adrian Binelli
3   Hospital Pedro de Elizalde, Departamento de Neuropediatría, Buenos Aires, Argentina;
,
Gabriel Persi
2   Sanatorio de la Trinidad Mitre, Departamento de Neurología, Buenos Aires, Argentina;
,
Ferdinando Squitieri
4   San Giovanni Rotondo and Mendel Institute of Human Genetics, IRCCS Casa Sollievo della Sofferenza, Rome, Italy.
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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.

RESUMO

Foram analisadas as características demográficas, clínicas e genéticas de doença de Huntington juvenil (JHD) e na freqüência em uma coorte argentino. A idade de início foi definida como a idade em que distúrbios comportamentais, cognitivos, psiquiátricos ou anormalidades motoras sugestivas de JHD foram relatada pela primeira vez. Os dados clínicos e genéticos foram semelhantes aos de outras séries internacionais, no entanto, neste contexto identificamos a maior freqüência de JHD relatados até agora (19,72%; 14/71). A idade de início de JHD é um desafio ainda em discussão. Nossos resultados reforçam a hipótese de que as manifestações clínicas, além do transtorno de movimento típico, pode antecipar a idade de início em muitos anos. As análises de coortes de JHD são obrigados a explorar frequências em populações com diferentes formações, para evitar uma subestimação deste fenótipo raro. Além disso, os dados de populações selecionadas podem abrir novos caminhos em abordagens terapêuticas e pode explicar novas correlações potenciais entre apresentações de HD e fatores ambientais ou biológicas

juvenile Huntington disease - chorea - genetics - Huntington disease prevalence
doença de Huntington juvenil - coreia - genética - doença de Huntington predomínio


Publication History

Received: 06 June 2015

Accepted: 18 September 2015

Article published online:
06 September 2023

© 2015. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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