caa a22 4500 445808683 CHVBK 20180317145204.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s00415-011-6079-9 doi (NATIONALLICENCE)springer-10.1007/s00415-011-6079-9 Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease [Elektronische Daten] [Eduardo López-Laso, Araceli Sánchez-Raya, Juan Moriana, Eduardo Martínez-Gual, Rafael Camino-León, María Mateos-González, Juan Pérez-Navero, Juan Ochoa-Sepúlveda, Aida Ormazabal, Thomas Opladen, Christine Klein, José Lao-Villadóniga, Katrin Beyer, Rafael Artuch] 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. Springer-Verlag, 2011 Dopa-responsive dystonia nationallicence Segawa disease nationallicence Guanosine triphosphate cyclohydrolase I deficiency nationallicence IQ nationallicence Neuropsychiatric symptoms nationallicence López-Laso Eduardo Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut Sánchez-Raya Araceli Department of Psychology, University of Córdoba, Córdoba, Spain aut Moriana Juan Department of Psychology, University of Córdoba, Córdoba, Spain aut Martínez-Gual Eduardo Termes Foundation, Cabra, Córdoba, Spain aut Camino-León Rafael Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut Mateos-González María Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut Pérez-Navero Juan Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut Ochoa-Sepúlveda Juan Department of Neurology, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut Ormazabal Aida Department of Clinical Chemistry, University Hospital Sant Joan de Déu, Barcelona, Spain aut Opladen Thomas Department of Pediatrics, University of Heidelberg, Heidelberg, Germany aut Klein Christine Department of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany aut Lao-Villadóniga José Department of Molecular Genetics, Laboratorio de Análisis Dr. Echevarne, Barcelona, Spain aut Beyer Katrin Department of Neuropathology, University Hospital Germans Trías i Pujol, Badalona, Barcelona, Spain aut Artuch Rafael Department of Clinical Chemistry, University Hospital Sant Joan de Déu, Barcelona, Spain aut Journal of Neurology Springer-Verlag 258/12(2011-12-01), 2155-2162 0340-5354 258:12<2155 2011 258 415 https://doi.org/10.1007/s00415-011-6079-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-6079-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- López-Laso Eduardo Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut NATIONALLICENCE 700 1- Sánchez-Raya Araceli Department of Psychology, University of Córdoba, Córdoba, Spain aut NATIONALLICENCE 700 1- Moriana Juan Department of Psychology, University of Córdoba, Córdoba, Spain aut NATIONALLICENCE 700 1- Martínez-Gual Eduardo Termes Foundation, Cabra, Córdoba, Spain aut NATIONALLICENCE 700 1- Camino-León Rafael Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut NATIONALLICENCE 700 1- Mateos-González María Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut NATIONALLICENCE 700 1- Pérez-Navero Juan Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut NATIONALLICENCE 700 1- Ochoa-Sepúlveda Juan Department of Neurology, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain aut NATIONALLICENCE 700 1- Ormazabal Aida Department of Clinical Chemistry, University Hospital Sant Joan de Déu, Barcelona, Spain aut NATIONALLICENCE 700 1- Opladen Thomas Department of Pediatrics, University of Heidelberg, Heidelberg, Germany aut NATIONALLICENCE 700 1- Klein Christine Department of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany aut NATIONALLICENCE 700 1- Lao-Villadóniga José Department of Molecular Genetics, Laboratorio de Análisis Dr. Echevarne, Barcelona, Spain aut NATIONALLICENCE 700 1- Beyer Katrin Department of Neuropathology, University Hospital Germans Trías i Pujol, Badalona, Barcelona, Spain aut NATIONALLICENCE 700 1- Artuch Rafael Department of Clinical Chemistry, University Hospital Sant Joan de Déu, Barcelona, Spain aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/12(2011-12-01), 2155-2162 0340-5354 258:12<2155 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer