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

Detalhes bibliográficos
Autor(a) principal: Scola,Rosana H.
Data de Publicação: 2007
Outros Autores: Carducci,Carla, Amaral,Vanise G., Lorenzoni,Paulo J., Teive,Helio A.G., Giovanniello,Teresa, Werneck,Lineu C.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000700026
Resumo: Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.
id ABNEURO-1_fed6db15ff38eb21b06d69e618d92f2c
oai_identifier_str oai:scielo:S0004-282X2007000700026
network_acronym_str ABNEURO-1
network_name_str Arquivos de neuro-psiquiatria (Online)
repository_id_str
spelling A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystoniadystonialevodopadopa-responsive dystoniaguanosine triphosphate cyclohydrolase 1GCH1 geneDopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.Academia Brasileira de Neurologia - ABNEURO2007-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000700026Arquivos de Neuro-Psiquiatria v.65 n.4b 2007reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2007000700026info:eu-repo/semantics/openAccessScola,Rosana H.Carducci,CarlaAmaral,Vanise G.Lorenzoni,Paulo J.Teive,Helio A.G.Giovanniello,TeresaWerneck,Lineu C.eng2008-03-07T00:00:00Zoai:scielo:S0004-282X2007000700026Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2008-03-07T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
title A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
spellingShingle A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
Scola,Rosana H.
dystonia
levodopa
dopa-responsive dystonia
guanosine triphosphate cyclohydrolase 1
GCH1 gene
title_short A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
title_full A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
title_fullStr A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
title_full_unstemmed A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
title_sort A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
author Scola,Rosana H.
author_facet Scola,Rosana H.
Carducci,Carla
Amaral,Vanise G.
Lorenzoni,Paulo J.
Teive,Helio A.G.
Giovanniello,Teresa
Werneck,Lineu C.
author_role author
author2 Carducci,Carla
Amaral,Vanise G.
Lorenzoni,Paulo J.
Teive,Helio A.G.
Giovanniello,Teresa
Werneck,Lineu C.
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Scola,Rosana H.
Carducci,Carla
Amaral,Vanise G.
Lorenzoni,Paulo J.
Teive,Helio A.G.
Giovanniello,Teresa
Werneck,Lineu C.
dc.subject.por.fl_str_mv dystonia
levodopa
dopa-responsive dystonia
guanosine triphosphate cyclohydrolase 1
GCH1 gene
topic dystonia
levodopa
dopa-responsive dystonia
guanosine triphosphate cyclohydrolase 1
GCH1 gene
description Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.
publishDate 2007
dc.date.none.fl_str_mv 2007-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000700026
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000700026
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2007000700026
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.65 n.4b 2007
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
_version_ 1754212762976780288

Registros relacionados