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Eur J Neurol ; 14(12): 1344-50, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17941857

RESUMO

Huntington disease (HD) is a neurodegenerative disorder due to an excessive number of CAG repeats in the IT15 gene on chromosome 4. Studies of cognitive function in asymptomatic gene carriers have yielded contradictory results. This study compared cognitive performance in 44 subjects with the HD mutation (group of carriers) who had no clinical signs of HD and 39 at-risk individuals without HD mutation (group of non-carriers). Neuropsychological evaluation focused on global cognitive efficiency, psychomotor speed, attentional, executive and memory functions. Significant differences, with lower performances in the group of gene carriers, were detected for some measures of psychomotor speed, attention and executive functioning (all P < 0.01). More differences between groups were observed for memory measures, in particular on the California Verbal Memory Test. Complementing these observations, cognitive scores were correlated with age in the group of gene carriers, but not in the group of non-carriers. This suggests that the cognitive changes precede the appearance of the motor and psychiatric symptoms in HD and that tests proved to be sensitive to early HD deficiencies are better suited than global cognitive efficiency scales to observe them.


Assuntos
Transtornos Cognitivos/genética , Predisposição Genética para Doença/genética , Heterozigoto , Doença de Huntington/complicações , Doença de Huntington/genética , Adolescente , Adulto , Fatores Etários , Cromossomos Humanos Par 4/genética , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/fisiopatologia , Análise Mutacional de DNA , Progressão da Doença , Diagnóstico Precoce , Feminino , Testes Genéticos , Humanos , Proteína Huntingtina , Doença de Huntington/psicologia , Masculino , Transtornos da Memória/diagnóstico , Transtornos da Memória/genética , Transtornos da Memória/fisiopatologia , Pessoa de Meia-Idade , Mutação/genética , Proteínas do Tecido Nervoso/genética , Testes Neuropsicológicos , Proteínas Nucleares/genética , Valor Preditivo dos Testes , Prognóstico , Desempenho Psicomotor/fisiologia , Sensibilidade e Especificidade
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