title: Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.
abstract: 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.
authors.affiliation: Clínica para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba.
authors.forename: Luis
authors.initials: L
authors.lastname: Velázquez-Pérez
authors.forename: Carola
authors.initials: C
authors.lastname: Seifried
authors.forename: Nieves
authors.initials: N
authors.lastname: Santos-Falcón
authors.forename: Michael
authors.initials: M
authors.lastname: Abele
authors.forename: Ulf
authors.initials: U
authors.lastname: Ziemann
authors.forename: Luis Enrique
authors.initials: LE
authors.lastname: Almaguer
authors.forename: Edilberto
authors.initials: E
authors.lastname: Martínez-Góngora
authors.forename: Gilberto
authors.initials: G
authors.lastname: Sánchez-Cruz
authors.forename: Nalia
authors.initials: N
authors.lastname: Canales
authors.forename: Ruth
authors.initials: R
authors.lastname: Pérez-González
authors.forename: Mercedes
authors.initials: M
authors.lastname: Velázquez-Manresa
authors.forename: Bettina
authors.initials: B
authors.lastname: Viebahn
authors.forename: Sebastian
authors.initials: S
authors.lastname: von Stuckrad-Barre
authors.forename: Michael
authors.initials: M
authors.lastname: Fetter
authors.forename: Thomas
authors.initials: T
authors.lastname: Klockgether
authors.forename: Georg
authors.initials: G
authors.lastname: Auburger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D010455:Peptides / Q000235:genetics / Q000502:physiology*; D012438:Saccades / Q000235:genetics / Q000502:physiology*; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000503:physiopathology*
chemical_list: D010455:Peptides; C097188:polyglutamine