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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Abstract - Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presen...

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Hauptverfasser: Kuseyri Hübschmann, Oya (VerfasserIn) , Horvath, Gabriella (VerfasserIn) , Cortès-Saladelafont, Elisenda (VerfasserIn) , Yıldız, Yılmaz (VerfasserIn) , Pons, Roser (VerfasserIn) , Friedman, Jennifer (VerfasserIn) , Mercimek-Andrews, Saadet (VerfasserIn) , Wong, Suet-Na (VerfasserIn) , Pearson, Toni S. (VerfasserIn) , Zafeiriou, Dimitrios I. (VerfasserIn) , Kulhánek, Jan (VerfasserIn) , Kurian, Manju A. (VerfasserIn) , López-Laso, Eduardo (VerfasserIn) , Oppebøen, Mari (VerfasserIn) , Kılavuz, Sebile (VerfasserIn) , Wassenberg, Tessa (VerfasserIn) , Goez, Helly (VerfasserIn) , Scholl-Bürgi, Sabine (VerfasserIn) , Porta, Francesco (VerfasserIn) , Honzík, Tomáš (VerfasserIn) , Santer, René (VerfasserIn) , Burlina, Alberto (VerfasserIn) , Sivri, H. Serap (VerfasserIn) , Leuzzi, Vincenzo (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Jeltsch, Kathrin (VerfasserIn) , Hübschmann, Daniel (VerfasserIn) , Garbade, Sven F. (VerfasserIn) , Assmann, Birgit (VerfasserIn) , Fung, Cheuk-Wing (VerfasserIn) , Guder, Philipp (VerfasserIn) , Hong, Stacey Tay Kiat (VerfasserIn) , Karall, Daniela (VerfasserIn) , Kato, Mitsuhiro (VerfasserIn) , Kavecan, Ivana (VerfasserIn) , Koht, Jeanette Aimee (VerfasserIn) , Kuster, Alice (VerfasserIn) , Lücke, Thomas (VerfasserIn) , Manti, Filippo (VerfasserIn) , Mir, Pablo (VerfasserIn) , Mühlhausen, Chris (VerfasserIn) , Önenli Mungan, Halise Neslihan (VerfasserIn) , Palacios, Natalia Alexandra Julia (VerfasserIn) , Ramos, Joaquín Alejandro Fernández (VerfasserIn) , Steel, Dora (VerfasserIn) , Stevanović, Galina (VerfasserIn) , Sykut-Cegielska, Jolanta (VerfasserIn) , Verbeek, Marcel M. (VerfasserIn) , García-Cazorla, Angeles (VerfasserIn) , Opladen, Thomas (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 20 September 2021
In: Nature Communications
Year: 2021, Jahrgang: 12, Pages: 1-13
ISSN:2041-1723
DOI:10.1038/s41467-021-25515-5
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41467-021-25515-5
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41467-021-25515-5
Volltext
Verfasserangaben:Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Birgit Assmann, Cheuk-Wing Fung, Philipp Guder, Stacey Tay Kiat Hong, Daniela Karall, Mitsuhiro Kato, Ivana Kavecan, Jeanette Aimee Koht, Alice Kuster, Thomas Lücke, Filippo Manti, Pablo Mir, Chris Mühlhausen, Halise Neslihan Önenli Mungan, Natalia Alexandra Julia Palacios, Joaquín Alejandro Fernández Ramos, Dora Steel, Galina Stevanović, Jolanta Sykut-Cegielska, Marcel M. Verbeek, , iNTD Registry Study Group, Angeles García-Cazorla & Thomas Opladen

MARC

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520 |a Abstract - Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders. 
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