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Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2
Author(s) -
VelázquezPérez Luis,
Seifried Carola,
SantosFalcón Nieves,
Abele Michael,
Ziemann Ulf,
Almaguer Luis Enrique,
MartínezGóngora Edilberto,
SánchezCruz Gilberto,
Canales Nalia,
PérezGonzález Ruth,
VelázquezManresa Mercedes,
Viebahn Bettina,
Von StuckradBarre Sebastian,
Fetter Michael,
Klockgether Thomas,
Auburger Georg
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20220
Subject(s) - spinocerebellar ataxia , endophenotype , saccade , ataxia , machado–joseph disease , neuroscience , medicine , disease , audiology , psychology , eye movement , cognition
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. Ann Neurol 2004;56:444–447