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The Cerebellum

, Volume 17, Issue 2, pp 204–212 | Cite as

Personality and Neuropsychological Profiles in Friedreich Ataxia

  • Sabrina Sayah
  • Jean-Yves Rotgé
  • Hélène Francisque
  • Marcela Gargiulo
  • Virginie Czernecki
  • Damian Justo
  • Khadija Lahlou-Laforet
  • Valérie Hahn
  • Massimo Pandolfo
  • Antoine Pelissolo
  • Philippe Fossati
  • Alexandra Durr
Original Paper

Abstract

Friedreich ataxia, an autosomal recessive mitochondrial disease, is the most frequent inherited ataxia. Many studies have attempted to identify cognitive and affective changes associated with the disease, but conflicting results have been obtained, depending on the tests used and because many of the samples studied were very small. We investigated personality and neuropsychological characteristics in a cohort of 47 patients with genetically confirmed disease. The neuropsychological battery assessed multiple cognition domains: processing speed, attention, working memory, executive functions, verbal memory, vocabulary, visual reasoning, emotional recognition, and social cognition. Personality was assessed with the Temperament and Character Inventory, and depressive symptoms were assessed with the Beck Depression Inventory. We found deficits of sustained attention, processing speed, semantic capacities, and verbal fluency only partly attributable to motor deficit or depressed mood. Visual reasoning, memory, and learning were preserved. Emotional processes and social cognition were unimpaired. We also detected a change in automatic processes, such as reading. Personality traits were characterized by high persistence and low self-transcendence. The mild cognitive impairment observed may be a developmental rather than degenerative problem, due to early cerebellum dysfunction, with the impairment of cognitive and emotional processing. Disease manifestations at crucial times for personality development may also have an important impact on personality traits.

Keywords

Friedreich ataxia Cerebellum Neuropsychology Personality Emotional recognition Social cognition 

Notes

Acknowledgments

This study is an ancillary substudy of EFACTS (European Friedreich Ataxia Consortium for Translational Studies -www.e-facts.eu, NCT02069509) coordinated by M. Pandolfo. We thank the participants for their patience, and Aurelie Guignebert, Martine Frischmann, and Mathieu Anheim for fruitful initial discussions.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were carried out in accordance with the ethical standards of the institutional and/or national research committee and the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Sabrina Sayah
    • 1
    • 2
  • Jean-Yves Rotgé
    • 2
    • 3
  • Hélène Francisque
    • 4
  • Marcela Gargiulo
    • 1
    • 5
    • 6
  • Virginie Czernecki
    • 7
  • Damian Justo
    • 8
  • Khadija Lahlou-Laforet
    • 9
  • Valérie Hahn
    • 8
  • Massimo Pandolfo
    • 10
  • Antoine Pelissolo
    • 11
  • Philippe Fossati
    • 2
    • 3
  • Alexandra Durr
    • 1
    • 2
    • 12
  1. 1.AP-HP, Genetic DepartmentPitié-Salpêtrière University HospitalParisFrance
  2. 2.ICM, Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR7225Sorbonne Universités – UPMC Université Paris VI UMR_S1127ParisFrance
  3. 3.AP-HP, Service de PsychiatriePitié-Salpêtrière University HospitalParisFrance
  4. 4.APHP, Hôpitaux Universitaires Saint Louis Lariboisière Fernand-WidalParisFrance
  5. 5.Institut de MyologiePitié-Salpêtrière University HospitalParisFrance
  6. 6.Laboratoire de Psychologie Clinique et Psychopathologie, EA 4056Université Paris Descartes, Sorbonne Paris Cité, Institut de PsychologieParisFrance
  7. 7.AP-HP, Département des Maladies du Système NerveuxPitié-Salpêtrière University HospitalParisFrance
  8. 8.Unité de neurologie de la Mémoire et du LangageCentre Hospitalier Sainte-AnneParisFrance
  9. 9.Unité de Psychologie et Psychiatrie de Liaison et d’UrgencesHôpital Européen Georges Pompidou, Service de Psychiatrie Adulte et du Sujet Agé, Hôpitaux Universitaires Paris-OuestParisFrance
  10. 10.Service de Neurologie, Hôpital ErasmeUniversité Libre de BruxellesBrusselsBelgium
  11. 11.AP-HP, Service de PsychiatrieHôpitaux Universitaires Henri-MondorCréteilFrance
  12. 12.ICM, Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-SalpêtrièreParis Cedex 13France

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