Literature DB >> 22068827

Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.

Chang-Yong Tsao1.   

Abstract

Guanine triphosphate (GTP)-cyclohydrolase 1 (GCH1)-deficient dopa-responsive dystonia is caused by GCH1 gene mutation. Two children presenting with frequent daily falling are reported with GCH1 gene mutations with persistent response to low-dose levodopa/carbidopa. Typical and atypical clinical features associated with GCH1 mutations are also reviewed.

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Year:  2011        PMID： 22068827      PMCID： PMC4005918          DOI： 10.1177/0883073811420871

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  9 in total

1.  Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Authors:  J L K Van Hove; J Steyaert; G Matthijs; E Legius; P Theys; R Wevers; A Romstad; L B Møller; K Hedrich; D Goriounov; N Blau; C Klein; P Casaer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-01       Impact factor: 10.154

2.  Hereditary progressive dystonia with marked diurnal fluctuation.

Authors:  M Segawa; A Hosaka; F Miyagawa; Y Nomura; H Imai
Journal:  Adv Neurol       Date:  1976

3.  Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.

Authors:  Russell C Dale; Anna Melchers; Victor S C Fung; Padraic Grattan-Smith; Henry Houlden; John Earl
Journal:  Dev Med Child Neurol       Date:  2010-02-19       Impact factor: 5.449

4.  Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene.

Authors:  H Hahn; M R Trant; M J Brownstein; R A Harper; S Milstien; I J Butler
Journal:  Arch Neurol       Date:  2001-05

5.  Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

Authors:  H Ichinose; T Ohye; E Takahashi; N Seki; T Hori; M Segawa; Y Nomura; K Endo; H Tanaka; S Tsuji
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

6.  High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.

Authors:  J Hagenah; R Saunders-Pullman; K Hedrich; K Kabakci; K Habermann; K Wiegers; K Mohrmann; T Lohnau; D Raymond; P Vieregge; T Nygaard; L J Ozelius; S B Bressman; C Klein
Journal:  Neurology       Date:  2005-03-08       Impact factor: 9.910

7.  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

8.  Frequency of GCH1 deletions in Dopa-responsive dystonia.

Authors:  B Zirn; D Steinberger; C Troidl; K Brockmann; M von der Hagen; C Feiner; L Henke; U Müller
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-09-26       Impact factor: 10.154

9.  Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids.

Authors:  Keith Hyland
Journal:  J Nutr       Date:  2007-06       Impact factor: 4.798
  9 in total
  2 in total

Review 1.  Genetic updates on paroxysmal dyskinesias.

Authors:  James Y Liao; Philippe A Salles; Umar A Shuaib; Hubert H Fernandez
Journal:  J Neural Transm (Vienna)       Date:  2021-04-30       Impact factor: 3.575

Review 2.  Dopa-responsive dystonia--clinical and genetic heterogeneity.

Authors:  Subhashie Wijemanne; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2015-06-23       Impact factor: 42.937
  2 in total

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