Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.
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.
Velázquez-Pérez
Luis
L
Clínica para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba.
Seifried
Carola
C
Santos-Falcón
Nieves
N
Abele
Michael
M
Ziemann
Ulf
U
Almaguer
Luis Enrique
LE
Martínez-Góngora
Edilberto
E
Sánchez-Cruz
Gilberto
G
Canales
Nalia
N
Pérez-González
Ruth
R
Velázquez-Manresa
Mercedes
M
Viebahn
Bettina
B
von Stuckrad-Barre
Sebastian
S
Fetter
Michael
M
Klockgether
Thomas
T
Auburger
Georg
G
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*
D010455:Peptides; C097188:polyglutamine