Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

• Verfasst von: López-Laso, Eduardo [VerfasserIn]
• Verfasst von: Sánchez-Raya, Araceli [VerfasserIn]
• Verfasst von: Moriana, Juan Antonio [VerfasserIn]
• Verfasst von: Martínez-Gual, Eduardo [VerfasserIn]
• Verfasst von: Camino-León, Rafael [VerfasserIn]
• Verfasst von: Mateos-González, María Elena [VerfasserIn]
• Verfasst von: Pérez-Navero, Juan Luis [VerfasserIn]
• Verfasst von: Ochoa-Sepúlveda, Juan José [VerfasserIn]
• Verfasst von: Ormazabal, Aida [VerfasserIn]
• Verfasst von: Opladen, Thomas [VerfasserIn]
• Verfasst von: Klein, Christine [VerfasserIn]
• Verfasst von: Lao-Villadóniga, José Ignacio [VerfasserIn]
• Verfasst von: Beyer, Katrin [VerfasserIn]
• Verfasst von: Artuch, Rafael [VerfasserIn]
• Titel: Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
• Verf.angabe: Eduardo López-Laso, Araceli Sánchez-Raya, Juan Antonio Moriana, Eduardo Martínez-Gual, Rafael Camino-León, María Elena Mateos-González, Juan Luis Pérez-Navero, Juan José Ochoa-Sepúlveda, Aida Ormazabal, Thomas Opladen, Christine Klein, José Ignacio Lao-Villadóniga, Katrin Beyer, Rafael Artuch
• E-Jahr: 2011
• Jahr: 10 May 2011
• Umfang: 8 S.
• Fussnoten: Gesehen am 10.10.2022
• Titel Quelle: Enthalten in: Journal of neurology
• Ort Quelle: [Darmstadt] : Steinkopff, 1891
• Jahr Quelle: 2011
• Band/Heft Quelle: 258(2011), 12, Seite 2155-2162
• ISSN Quelle: 1432-1459
• DOI: doi:10.1007/s00415-011-6079-9
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Dopa-responsive dystonia
• Sach-SW: Guanosine triphosphate cyclohydrolase I deficiency
• Sach-SW: IQ
• Sach-SW: Neuropsychiatric symptoms
• Sach-SW: Segawa disease
• K10plus-PPN: 1818378884

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.