Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2

• DOI: 10.1002/ana.20220
• Publication Date: 2004-08-31T16:01:49Z
• Authors: Luis Velázquez‐Pérez; Carola Seifried; Nieves Santos‐Falcón; Michael Abele; Ulf Ziemann; Luis Enrique Alma...; Edilberto Martíne...; Gilberto Sánchez‐...; Nalia Canales; Ruth Pérez‐González; Mercedes Velázque...; Bettina Viebahn; Sebastian Von Stu...; Michael Fetter; Thomas Klockgether; Georg Auburger
• Keywords: Endophenotype; Machado–Joseph disease

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, score, age, sex. Little overlap with normal values was found even earliest stages. Stepwise linear regression analysis showed that 60-degree MSV strongly influenced by size less whereas the reverse for score. Saccade thus is a sensitive, quite specific, objective endophenotype, useful search modifier genes.