Literature DB >> 35083481

Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.

Seth I Berger1,2,3,4, Ilana Miller1, Laura Tochen4,5.   

Abstract

An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of treatable DOPA-responsive dystonia.
Copyright © 2022 by the American Academy of Pediatrics.

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Year:  2022        PMID： 35083481      PMCID： PMC8840640          DOI： 10.1542/peds.2021-052886

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  16 in total

Review 1.  Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.

Authors:  Nastassja Himmelreich; Nenad Blau; Beat Thöny
Journal:  Mol Genet Metab       Date:  2021-04-19       Impact factor: 4.797

2.  Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

Authors:  D Steinberger; R Korinthenberg; H Topka; M Berghäuser; R Wedde; U Müller
Journal:  Neurology       Date:  2000-12-12       Impact factor: 9.910

3.  Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

Authors:  Thomas Opladen; Jürgen G Okun; Peter Burgard; Nenad Blau; Georg F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2010-07-29       Impact factor: 4.982

4.  A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.

Authors:  Rosana H Scola; Carla Carducci; Vanise G Amaral; Paulo J Lorenzoni; Helio A G Teive; Teresa Giovanniello; Lineu C Werneck
Journal:  Arq Neuropsiquiatr       Date:  2007-12       Impact factor: 1.420

5.  Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Authors:  Fabienne Clot; David Grabli; Cécile Cazeneuve; Emmanuel Roze; Pierre Castelnau; Brigitte Chabrol; Pierre Landrieu; Karine Nguyen; Gérard Ponsot; Myriem Abada; Diane Doummar; Philippe Damier; Roger Gil; Stéphane Thobois; Alana J Ward; Michael Hutchinson; Annick Toutain; Fabienne Picard; Agnès Camuzat; Estelle Fedirko; Chankannira Sân; Delphine Bouteiller; Eric LeGuern; Alexandra Durr; Marie Vidailhet; Alexis Brice
Journal:  Brain       Date:  2009-06-02       Impact factor: 13.501

6.  Dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease: evidence observed in studies on Segawa disease.

Authors:  Masaya Segawa; Yoshiko Nomura; Masaharu Hayashi
Journal:  Neuropediatrics       Date:  2013-03-06       Impact factor: 1.947

7.  Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.

Authors:  Sarah Teixeira Camargos; Francisco Cardoso; Parastoo Momeni; Juliana Gurgel Gianetti; Andrew Lees; John Hardy; Andrew Singleton
Journal:  Mov Disord       Date:  2008-01-30       Impact factor: 10.338

8.  Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Authors:  Siddharth Srivastava; Jamie A Love-Nichols; Kira A Dies; David H Ledbetter; Christa L Martin; Wendy K Chung; Helen V Firth; Thomas Frazier; Robin L Hansen; Lisa Prock; Han Brunner; Ny Hoang; Stephen W Scherer; Mustafa Sahin; David T Miller
Journal:  Genet Med       Date:  2019-06-11       Impact factor: 8.822

9.  Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Authors:  Niccolò E Mencacci; Ioannis U Isaias; Martin M Reich; Christos Ganos; Vincent Plagnol; James M Polke; Jose Bras; Joshua Hersheson; Maria Stamelou; Alan M Pittman; Alastair J Noyce; Kin Y Mok; Thomas Opladen; Erdmute Kunstmann; Sybille Hodecker; Alexander Münchau; Jens Volkmann; Samuel Samnick; Katie Sidle; Tina Nanji; Mary G Sweeney; Henry Houlden; Amit Batla; Anna L Zecchinelli; Gianni Pezzoli; Giorgio Marotta; Andrew Lees; Paulo Alegria; Paul Krack; Florence Cormier-Dequaire; Suzanne Lesage; Alexis Brice; Peter Heutink; Thomas Gasser; Steven J Lubbe; Huw R Morris; Pille Taba; Sulev Koks; Elisa Majounie; J Raphael Gibbs; Andrew Singleton; John Hardy; Stephan Klebe; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2014-07-02       Impact factor: 13.501

10.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504
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