Journal of Neurology

, Volume 258, Issue 12, pp 2155–2162 | Cite as

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

  • Eduardo López-LasoEmail author
  • 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
Original Communication


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.


Dopa-responsive dystonia Segawa disease Guanosine triphosphate cyclohydrolase I deficiency IQ Neuropsychiatric symptoms 



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.

Conflict of interest



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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Eduardo López-Laso
    • 1
    Email author
  • Araceli Sánchez-Raya
    • 2
  • Juan Antonio Moriana
    • 2
  • Eduardo Martínez-Gual
    • 3
  • Rafael Camino-León
    • 1
  • María Elena Mateos-González
    • 1
  • Juan Luis Pérez-Navero
    • 1
  • Juan José Ochoa-Sepúlveda
    • 4
  • Aida Ormazabal
    • 5
    • 6
  • Thomas Opladen
    • 7
  • Christine Klein
    • 8
  • José Ignacio Lao-Villadóniga
    • 9
  • Katrin Beyer
    • 10
  • Rafael Artuch
    • 5
    • 6
  1. 1.Pediatric Neurology Unit, Department of PediatricsUniversity Hospital Reina SofiaCórdobaSpain
  2. 2.Department of PsychologyUniversity of CórdobaCórdobaSpain
  3. 3.Termes FoundationCórdobaSpain
  4. 4.Department of NeurologyUniversity Hospital Reina SofiaCórdobaSpain
  5. 5.Department of Clinical ChemistryUniversity Hospital Sant Joan de DéuBarcelonaSpain
  6. 6.Center for Research in Rare Diseases (CIBERER-ISCIII)BarcelonaSpain
  7. 7.Department of PediatricsUniversity of HeidelbergHeidelbergGermany
  8. 8.Department of Clinical and Molecular Neurogenetics at the Department of NeurologyUniversity of LuebeckLuebeckGermany
  9. 9.Department of Molecular GeneticsLaboratorio de Análisis Dr. EchevarneBarcelonaSpain
  10. 10.Department of NeuropathologyUniversity Hospital Germans Trías i PujolBadalonaSpain

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