The Cerebellum

, Volume 12, Issue 4, pp 504–512 | Cite as

Cognition in Late-Onset Friedreich Ataxia

  • Antonieta NietoEmail author
  • Rut Correia
  • Erika de Nóbrega
  • Fernando Montón
  • Jose Barroso
Original Paper


Friedreich ataxia (FRDA) is the most common hereditary ataxia. Since the discovery of the genetic cause of this disease, the phenotypic spectrum seems to be wider, including late-onset forms such as late-onset Friedreich ataxia—LOFA (25–39 years at onset). The neuropathological and clinical patterns in patients with LOFA are similar to those in patients with typical FRDA, but LOFA patients tend to have an overall milder, slowly evolving disease. Given the lack of data about cognitive performance of LOFA, we aimed to investigate whether differences in age at disease onset may be related also to differences at a cognitive level. Twenty-nine typical FRDA and seven LOFA 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. There were no significant differences in disease duration between the two groups of patients. Every patient group was matched in gender, age, years of education, and estimated IQ with a healthy-participant control group. Results indicate that both patient groups shared slowed motor processing speed and impaired conceptual thinking and verbal fluency. However, only typical FRDA patients showed a diminished cognitive processing speed and impaired visuoperceptive and visuoconstructive abilities. This pattern indicates that a later disease onset is associated to a milder cognitive impairment. Thus, our findings are in concordance with those related to clinical differences between typical FRDA and LOFA.


Cerebellum Cognition Late-onset Friedreich ataxia Friedreich ataxia Neuropsychology 



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. This research has been supported by a research grant from the Ministerio de Ciencia e Innovación (PSI2011-24665).

Conflict of interest

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

Supplementary material

12311_2013_457_MOESM1_ESM.doc (38 kb)
ESM 1 (DOC 38 kb)


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Antonieta Nieto
    • 1
    Email author
  • Rut Correia
    • 1
  • Erika de Nóbrega
    • 1
  • Fernando Montón
    • 2
  • Jose Barroso
    • 1
  1. 1.School of PsychologyUniversity of La LagunaLa LagunaSpain
  2. 2.Department of NeurologyHospital N.S. La CandelariaS/C de TenerifeSpain

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