RESUMEN

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.

Asunto(s)

Péptidos/fisiología , Movimientos Sacádicos/fisiología , Ataxias Espinocerebelosas/fisiopatología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad , Péptidos/genética , Movimientos Sacádicos/genética , Ataxias Espinocerebelosas/genética