Assuntos
Equilíbrio Postural , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Ataxina-2/genética , Estudos Transversais , Marcha , Heterozigoto , Humanos , Modelos Lineares , Pessoa de Meia-Idade , Sintomas Prodrômicos , Índice de Gravidade de Doença , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos , Percepção Visual , Adulto JovemRESUMO
We assessed maximal saccade velocity (MSV) in 82 spinocerebellar ataxia type 2 (SCA2) patients and 80 controls, correlating it to disease duration, polyglutamine expansion size, age at onset, ataxia score, age, and sex. Little overlap with normal values was found even at earliest stages. Stepwise linear regression analysis showed that 60-degree MSV was strongly influenced by polyglutamine size and less by disease duration, whereas the reverse was found for ataxia score. Saccade velocity thus is a sensitive, quite specific, and objective endophenotype, useful to search polyglutamine modifier genes.
Assuntos
Peptídeos/fisiologia , Movimentos Sacádicos/fisiologia , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Peptídeos/genética , Movimentos Sacádicos/genética , Ataxias Espinocerebelares/genéticaRESUMO
We assessed maximal saccade velocity (MSV) in 82 spinocerebellarataxia type 2 (SCA2) patients and 80 controls,correlating it to disease duration, polyglutamine expansionsize, age at onset, ataxia score, age, and sex. Littleoverlap with normal values was found even at earlieststages. Stepwise linear regression analysis showed that 60-degree MSV was strongly influenced by polyglutaminesize and less by disease duration, whereas the reverse wasfound for ataxia score. Saccade velocity thus is a sensitive,quite specific, and objective endophenotype, useful tosearch polyglutamine modifier genes...(AU)
