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Article

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.

Journal of neurology - 1 Dec 2011

López-Laso Eduardo, Sánchez-Raya Araceli, Moriana Juan Antonio, Martínez-Gual Eduardo, Camino-León Rafael, Mateos-González María Elena, Pérez-Navero Juan Luis, Ochoa-Sepúlveda Juan José, Ormazabal Aida, Opladen Thomas, Klein Christine, Lao-Villadóniga José Ignacio, Beyer Katrin, Artuch Rafael

Abstract excerpt

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...

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PMID: 21556877
DOI: 10.1007/s00415-011-6079-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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