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Cognition in Friedreich Ataxia

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Abstract

Friedreich ataxia (FRDA) is the most frequent of the inherited ataxias. However, very few studies have examined the cognitive status of patients with genetically defined FRDA. Our aim was to study cognitive performance of FRDA patients taking into account the motor problems characteristic of this clinical population. Thirty-six FRDA patients were administered a comprehensive neuropsychological battery measuring multiple domains: processing speed, attention, working memory, executive functions, verbal and visual memory, visuoperceptive and visuospatial skills, visuoconstructive functions, and language. Thirty-one gender, age, years of education, and estimated IQ-matched healthy participants served as control subjects. All participants were native Spanish speakers. Patients showed decreased motor and mental speed, problems in conceptual thinking, a diminished verbal fluency, deficits in acquisition of verbal information and use of semantic strategies in retrieval, visuoperceptive and visuoconstructive problems, and poor action naming. Scores on the depression inventory were significantly higher in patients than controls, but depression did not account for group differences in cognitive performance. The observed pattern of neuropsychological impairment is indicative of executive problems and parieto-temporal dysfunction. Neuropathological and neuroimaging studies with FRDA patients have reported only mild anomalies in cerebral hemispheres. Thus, cognitive impairment in FRDA is probably caused by the interruption of the cerebro-cerebellar circuits that have been proposed as the anatomical substrate of the cerebellar involvement in cognition.

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Acknowledgments

The authors thank Dr. Berciano (Hospital Marques de Valdecillas, Santander) and Dr. Arpa (Hospital La Paz, Madrid) for providing access to patients and for their helpful assistance. They also thank Margaret Guillon for linguistic review of the manuscript. This research has been partially supported by a research grant from Ministerio de Ciencia e Innovacion (PSI2011-24665) and Proyecto Estructurante Neurocog, financed by the ACIISI and cofinanced by FEDER funds and the University of La Laguna.

Conflict of Interest

The authors declare that they have no competing personal or financial interests.

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Authors and Affiliations

  1. School of Psychology, University of La Laguna, 38205, La Laguna, Tenerife, Spain

    Antonieta Nieto, Rut Correia, Erika de Nóbrega, Stephany Hess & Jose Barroso

  2. Department of Neurology, Hospital N.S. La Candelaria, S/C de Tenerife, Spain

    Fernando Montón

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  1. Antonieta Nieto
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Correspondence to Antonieta Nieto.

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Nieto, A., Correia, R., de Nóbrega, E. et al. Cognition in Friedreich Ataxia. Cerebellum 11, 834–844 (2012). https://doi.org/10.1007/s12311-012-0363-9

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