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Cerebellum. 2018 Apr;17(2):204-212. doi: 10.1007/s12311-017-0890-5.

Personality and Neuropsychological Profiles in Friedreich Ataxia.

Author information

1
AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France.
2
ICM, Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités - UPMC Université Paris VI UMR_S1127, Paris, France.
3
AP-HP, Service de Psychiatrie, Pitié-Salpêtrière University Hospital, Paris, France.
4
APHP, Hôpitaux Universitaires Saint Louis Lariboisière Fernand-Widal, Paris, France.
5
Institut de Myologie, Pitié-Salpêtrière University Hospital, Paris, France.
6
Laboratoire de Psychologie Clinique et Psychopathologie, EA 4056, Université Paris Descartes, Sorbonne Paris Cité, Institut de Psychologie, Paris, France.
7
AP-HP, Département des Maladies du Système Nerveux, Pitié-Salpêtrière University Hospital, Paris, France.
8
Unité de neurologie de la Mémoire et du Langage, Centre Hospitalier Sainte-Anne, Paris, France.
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.
10
Service de Neurologie, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
11
AP-HP, Service de Psychiatrie, Hôpitaux Universitaires Henri-Mondor, Créteil, France.
12
AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France. alexandra.durr@upmc.fr.
13
ICM, Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités - UPMC Université Paris VI UMR_S1127, Paris, France. alexandra.durr@upmc.fr.
14
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@upmc.fr.

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:

Cerebellum; Emotional recognition; Friedreich ataxia; Neuropsychology; Personality; Social cognition

PMID:
29086357
DOI:
10.1007/s12311-017-0890-5

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