Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia

Neuropediatrics 2018; 49(04): 296-297
DOI: 10.1055/s-0038-1626709

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Georg Thieme Verlag KG Stuttgart · New York

Marina Flotats-Bastardas

¹Department of Pediatric Neurology, Saarland University Medical Center, Homburg, Germany

²Department of Pediatric Neurology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain

,

Eva Hebert

³Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

,

Miquel Raspall-Chaure

²Department of Pediatric Neurology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain

,

Francina Munell

²Department of Pediatric Neurology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain

⁴Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain

,

Alfons Macaya

²Department of Pediatric Neurology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain

⁴Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain

,

Katja Lohmann

³Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

References
1 Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003; 54 (Suppl. 06) S32-S45
2 Furukawa Y, Kish SJ, Bebin EM. , et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998; 44 (01) 10-16
3 Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002; 59 (08) 1241-1243
4 Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996; 5 (03) 403-406
5 Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R. , et al. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. Mol Genet Metab 2008; 94 (01) 127-131
6 Opladen T, Hoffmann G, Hörster F. , et al. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord 2011; 26 (01) 157-161