Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2

Annals of Neurology
Luis Velázquez-PerezG Auburger

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.

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Citations

Apr 18, 2008·The Cerebellum·Isabel Lastres-BeckerGeorg Auburger
Mar 15, 2011·The Cerebellum·Luis Velázquez-PérezJosé Miguel Laffita-Mesa
Apr 30, 2009·PloS One·Luis Velázquez-PerezJuan Fernandez-Ruiz
Apr 9, 2014·BMC Neurology·Pairoj BoonkongchuenTeeratorn Pulkes
Feb 6, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Roberto Rodríguez-LabradaYanetza González-Zaldivar
Jan 15, 2010·Journal of the Neurological Sciences·Luis Velázquez-PerezAgustín Palomino Truitz
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May 9, 2012·Redox Report : Communications in Free Radical Research·Mariela Guevara-GarcíaJulio César García-Rodríguez
Sep 18, 2015·Lancet Neurology·Luis Velázquez-Pérez
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Feb 10, 2009·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·L Velázquez-PérezG Auburger
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Apr 16, 2011·Neuro-degenerative Diseases·Luis Velázquez-PérezInka Tuin
Dec 26, 2017·Cerebellum & Ataxias·Roberto Rodríguez-LabradaLuis Velázquez-Pérez
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Sep 17, 2020·International Journal of Molecular Sciences·Aleksandar ArsovićGeorg Auburger
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Dec 10, 2019·Journal of the Neurological Sciences·Luis E Almaguer-MederosPatrick MacLeod

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