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Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

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Abstract

Segawa disease is a rare dystonia due to autosomal dominant guanosine triphosphate cyclohydrolase I (adGTPCH) deficiency, affecting dopamine and serotonin biosynthesis. Recently, the clinical phenotype was expanded to include psychiatric manifestations, such as depression, anxiety, obsessive–compulsive disorder, and sleep disturbances. Although cognitive and neuropsychiatric symptoms may be attributable to dopamine deficiency in the prefrontal cortex and frontostriatal circuitry, intelligence is considered normal in Segawa disease. Our aim was to investigate neuropsychiatric symptoms and intelligence quotients (IQ) in a series of individuals with adGTPCH deficiency. The assessment included a structured clinical interview following the DSM-IV-TR’s guidelines, Beck’s Depression Inventory, the State-Trait Anxiety Inventory, the Maudsley Obsessive–Compulsive Questionnaire, the Barratt Impulsiveness Scale-11 (BIS-11), the Oviedo Sleep Questionnaire, the Pittsburgh Sleep Quality Index, and the Wechsler Adult Intelligence Scale-Third Edition. Equivalent tests were applied to pediatric patients as appropriate for their age group. Fourteen patients with adGTPCH deficiency were evaluated (seven adult and seven pediatric patients). Depression, anxiety, and obsessive–compulsive symptoms were not more common than expected in the general population. However, the seven adults showed impulsivity in the BIS-11; nine individuals had an IQ in the range of borderline intellectual functioning to mild mental retardation, and sleep disturbances were found in four individuals. We found no differences between these results and the motor impairment. In conclusion, our findings would suggest that cognitive impairment, and impulsivity in adults, may be associated with Segawa disease.

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Acknowledgments

Christine Klein is supported by the Volkswagen Foundation and by the Hermann and Lilly Schilling Foundation. The Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) is an initiative of the Instituto de Salud Carlos III (ISCIII) del Ministerio de Ciencia e Innovación (MICINN). Rafael Artuch has a “programa de intensificación de la actividad investigadora”. All other authors have nothing to disclose.

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Authors and Affiliations

  1. Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain

    Eduardo López-Laso, Rafael Camino-León, María Elena Mateos-González & Juan Luis Pérez-Navero

  2. Department of Psychology, University of Córdoba, Córdoba, Spain

    Araceli Sánchez-Raya & Juan Antonio Moriana

  3. Termes Foundation, Cabra, Córdoba, Spain

    Eduardo Martínez-Gual

  4. Department of Neurology, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain

    Juan José Ochoa-Sepúlveda

  5. Department of Clinical Chemistry, University Hospital Sant Joan de Déu, Barcelona, Spain

    Aida Ormazabal & Rafael Artuch

  6. Center for Research in Rare Diseases (CIBERER-ISCIII), Barcelona, Spain

    Aida Ormazabal & Rafael Artuch

  7. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany

    Thomas Opladen

  8. Department of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany

    Christine Klein

  9. Department of Molecular Genetics, Laboratorio de Análisis Dr. Echevarne, Barcelona, Spain

    José Ignacio Lao-Villadóniga

  10. Department of Neuropathology, University Hospital Germans Trías i Pujol, Badalona, Barcelona, Spain

    Katrin Beyer

Authors
  1. Eduardo López-Laso
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  2. Araceli Sánchez-Raya
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  3. Juan Antonio Moriana
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  4. Eduardo Martínez-Gual
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  5. Rafael Camino-León
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  6. María Elena Mateos-González
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  7. Juan Luis Pérez-Navero
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  8. Juan José Ochoa-Sepúlveda
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  9. Aida Ormazabal
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  10. Thomas Opladen
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  11. Christine Klein
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  12. José Ignacio Lao-Villadóniga
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  13. Katrin Beyer
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  14. Rafael Artuch
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Corresponding author

Correspondence to Eduardo López-Laso.

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López-Laso, E., Sánchez-Raya, A., Moriana, J.A. et al. Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease. J Neurol 258, 2155–2162 (2011). https://doi.org/10.1007/s00415-011-6079-9

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  • DOI: https://doi.org/10.1007/s00415-011-6079-9

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