title: Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: evidence from antisaccadic eye movements.
abstract: Although antisaccadic task is a sensitive research tool in psychopathology, it has not been systematically studied in patients with spinocerebellar ataxia type 2 (SCA2). To identify putative biomarkers of executive dysfunction in SCA2 we assessed the antisaccade performance in 41 SCA2 patients and their sex-and-age matched controls using an electronystagmography device. We studied the relationship between findings in the antisaccade task and CAG repeat length and motor function as assessed using the Scale for the Assessment and Rating of Ataxia (SARA), Nine-Hole Pegboard Test and a validated battery for executive dysfunctions. SCA2 patients showed a significant increase of inhibition and omission antisaccadic error rates, decrease of corrected antisaccadic errors and prolongation of antisaccadic latency and antisaccadic correction latency. Multiple regression predictions identified the expanded CAG repeat as a significant contributing factor on inhibition antisaccadic error rate and percentage of corrected antisaccadic errors. Impaired antisaccadic performance was associated to higher Stroop interference task and verbal fluency test deficits. In conclusion, antisaccadic eye movement abnormalities are a newly recognized association with the genetic abnormality in SCA2 and correlate with executive dysfunction in SCA2. Antisaccade parameters are a promising source of cognitive biomarkers for exploring the disease pathophysiology, and assessing the efficacy of therapeutic options.
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba. Electronic address: robertrl1981@gmail.com.
authors.forename: Roberto
authors.initials: R
authors.lastname: Rodríguez-Labrada
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba. Electronic address: velazq63@gmail.com.
authors.forename: Luis
authors.initials: L
authors.lastname: Velázquez-Pérez
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Raúl
authors.initials: R
authors.lastname: Aguilera-Rodríguez
authors.affiliation: Clinic for Neurology, University Hospital: Johann Wolfgang Goethe-University, Building 26, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.
authors.forename: Carola
authors.initials: C
authors.lastname: Seifried-Oberschmidt
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Arnoy
authors.initials: A
authors.lastname: Peña-Acosta
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Nalia
authors.initials: N
authors.lastname: Canales-Ochoa
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Medrano-Montero
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Annelié
authors.initials: A
authors.lastname: Estupiñan-Rodríguez
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Yaimeé
authors.initials: Y
authors.lastname: Vázquez-Mojena
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Yanetza
authors.initials: Y
authors.lastname: González-Zaldivar
authors.affiliation: Centre for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street #26, Holguín 80100, Cuba.
authors.forename: Jose M
authors.initials: JM
authors.lastname: Laffita Mesa
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D015415:Biomarkers / Q000032:analysis; D001933:Brain Stem / Q000503:physiopathology*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012091:Repetitive Sequences, Nucleic Acid; D012438:Saccades; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D055815:Young Adult
chemical_list: D015415:Biomarkers
keywords: Antisaccades; Biomarkers; CAG repeats; Executive dysfunctions; Spinocerebellar ataxias