Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements

• Published in: Brain and cognition 2014-11, Vol.91, p.28-34
• Main Authors: Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis, Aguilera-Rodríguez, Raúl, Seifried-Oberschmidt, Carola, Peña-Acosta, Arnoy, Canales-Ochoa, Nalia, Medrano-Montero, Jacqueline, Estupiñan-Rodríguez, Annelié, Vázquez-Mojena, Yaimeé, González-Zaldivar, Yanetza, Laffita Mesa, Jose M.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Adult and adolescent clinical studies; Alleles; Antisaccades; Biological and medical sciences; Biomarkers; Biomarkers - analysis; Brain Stem - physiopathology; CAG repeats; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Executive dysfunctions; Female; Gene Frequency - genetics; Humans; Male; Medical sciences; Middle Aged; Neurology; Organic mental disorders. Neuropsychology; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Repetitive Sequences, Nucleic Acid; Saccades; Spinocerebellar ataxias; Spinocerebellar Ataxias - genetics; Young Adult
• ISSN: 0278-2626; 1090-2147
• DOI: 10.1016/j.bandc.2014.07.007

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.