Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2

Autor:	Luis, Velázquez-Pérez, Carola, Seifried, Nieves, Santos-Falcón, Michael, Abele, Ulf, Ziemann, Luis Enrique, Almaguer, Edilberto, Martínez-Góngora, Gilberto, Sánchez-Cruz, Nalia, Canales, Ruth, Pérez-González, Mercedes, Velázquez-Manresa, Bettina, Viebahn, Sebastian, von Stuckrad-Barre, Michael, Fetter, Thomas, Klockgether, Georg, Auburger
Rok vydání:	2004
Předmět:	Adult Aged 80 and over Male Adolescent Linear Models Saccades Humans Spinocerebellar Ataxias Female Middle Aged Child Peptides Aged
Zdroj:	Annals of neurology. 56(3)
ISSN:	0364-5134
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::761ce9b93c307020a0af82c1b3361c37 https://pubmed.ncbi.nlm.nih.gov/15349876 Zobrazit plný text záznamu Plný text