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Personality and Neuropsychological Profiles in Friedreich Ataxia

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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.

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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.

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Authors and Affiliations

  1. AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France

    Sabrina Sayah, Marcela Gargiulo & Alexandra Durr

  2. ICM, Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités – UPMC Université Paris VI UMR_S1127, Paris, France

    Sabrina Sayah, Jean-Yves Rotgé, Philippe Fossati & Alexandra Durr

  3. AP-HP, Service de Psychiatrie, Pitié-Salpêtrière University Hospital, Paris, France

    Jean-Yves Rotgé & Philippe Fossati

  4. APHP, Hôpitaux Universitaires Saint Louis Lariboisière Fernand-Widal, Paris, France

    Hélène Francisque

  5. Institut de Myologie, Pitié-Salpêtrière University Hospital, Paris, France

    Marcela Gargiulo

  6. Laboratoire de Psychologie Clinique et Psychopathologie, EA 4056, Université Paris Descartes, Sorbonne Paris Cité, Institut de Psychologie, Paris, France

    Marcela Gargiulo

  7. AP-HP, Département des Maladies du Système Nerveux, Pitié-Salpêtrière University Hospital, Paris, France

    Virginie Czernecki

  8. Unité de neurologie de la Mémoire et du Langage, Centre Hospitalier Sainte-Anne, Paris, France

    Damian Justo & Valérie Hahn

  9. Unité de Psychologie et Psychiatrie de Liaison et d’Urgences, Hôpital Européen Georges Pompidou, Service de Psychiatrie Adulte et du Sujet Agé, Hôpitaux Universitaires Paris-Ouest, Paris, France

    Khadija Lahlou-Laforet

  10. Service de Neurologie, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium

    Massimo Pandolfo

  11. AP-HP, Service de Psychiatrie, Hôpitaux Universitaires Henri-Mondor, Créteil, France

    Antoine Pelissolo

  12. ICM, Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l’Hôpital, 75651, Paris Cedex 13, France

    Alexandra Durr

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  1. Sabrina Sayah
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  2. Jean-Yves Rotgé
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  3. Hélène Francisque
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  7. Khadija Lahlou-Laforet
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  8. Valérie Hahn
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  9. Massimo Pandolfo
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  10. Antoine Pelissolo
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  11. Philippe Fossati
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  12. Alexandra Durr
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Correspondence to Alexandra Durr.

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The authors declare that they have no conflict of interest.

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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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Sabrina Sayah and Jean-Yves Rotgé are joint first authors.

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Sayah, S., Rotgé, JY., Francisque, H. et al. Personality and Neuropsychological Profiles in Friedreich Ataxia. Cerebellum 17, 204–212 (2018). https://doi.org/10.1007/s12311-017-0890-5

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