1.
Cerebellum
; 16(1): 279-281, 2017 02.
Article
in English
| MEDLINE
| ID: mdl-26956609
Subject(s)
Postural Balance , Spinocerebellar Ataxias/physiopathology , Adolescent , Adult , Ataxin-2/genetics , Cross-Sectional Studies , Gait , Heterozygote , Humans , Linear Models , Middle Aged , Prodromal Symptoms , Severity of Illness Index , Spinocerebellar Ataxias/genetics , Trinucleotide Repeat Expansion , Visual Perception , Young Adult
2.
Ann Neurol
; 56(3): 444-7, 2004 Sep.
Article
in English
| MEDLINE
| ID: mdl-15349876
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.