Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation

We present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunctio...

ver descrição completa

Detalhes bibliográficos
Autores: Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2010
País:España
Recursos:Fundació Sant Joan de Déu
Repositório:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p1144
Acesso em linha:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1144
Access Level:Acceso aberto
Palavra-chave:tyrosine hydroxylase
infantile parkinsonism
oculogyric crisis
autonomic dysfunction
founder effect
id ES_84a9abe4828831c8a1b4ec2ec98ae19f
oai_identifier_str oai:fsjd.fundanetsuite.com:p1144
network_acronym_str ES
network_name_str España
repository_id_str
spelling Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral MutationPons RSerrano MOrmazabal AToma CGarcia-Cazorla AArea ERibasés MKanavakis EDrakaki KGiannakopoulos AOrfanou IYouroukos SCormand BArtuch Rtyrosine hydroxylaseinfantile parkinsonismoculogyric crisisautonomic dysfunctionfounder effectWe present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunction. Cerebrospinal fluid analysis disclosed reduced dopamine metabolites and normal pterins. Response to levodopa was favorable though not dramatic. All patients were homozygous for a previously reported mutation (p.L236P). SNP haplotype analysis was consistent with a common ancestral mutation, thus indicating a founder effect in Greek patients with TH deficiency. (C) 2010 Movement Disorder SocietyWILEY2010info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1144MOVEMENT DISORDERSISSN: 08853185ISSNe: 15318257reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p11442026-05-27T12:37:41Z
dc.title.none.fl_str_mv Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
title Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
spellingShingle Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
Pons R
tyrosine hydroxylase
infantile parkinsonism
oculogyric crisis
autonomic dysfunction
founder effect
title_short Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
title_full Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
title_fullStr Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
title_full_unstemmed Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
title_sort Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
dc.creator.none.fl_str_mv Pons R
Serrano M
Ormazabal A
Toma C
Garcia-Cazorla A
Area E
Ribasés M
Kanavakis E
Drakaki K
Giannakopoulos A
Orfanou I
Youroukos S
Cormand B
Artuch R
author Pons R
author_facet Pons R
Serrano M
Ormazabal A
Toma C
Garcia-Cazorla A
Area E
Ribasés M
Kanavakis E
Drakaki K
Giannakopoulos A
Orfanou I
Youroukos S
Cormand B
Artuch R
author_role author
author2 Serrano M
Ormazabal A
Toma C
Garcia-Cazorla A
Area E
Ribasés M
Kanavakis E
Drakaki K
Giannakopoulos A
Orfanou I
Youroukos S
Cormand B
Artuch R
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv tyrosine hydroxylase
infantile parkinsonism
oculogyric crisis
autonomic dysfunction
founder effect
topic tyrosine hydroxylase
infantile parkinsonism
oculogyric crisis
autonomic dysfunction
founder effect
description We present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunction. Cerebrospinal fluid analysis disclosed reduced dopamine metabolites and normal pterins. Response to levodopa was favorable though not dramatic. All patients were homozygous for a previously reported mutation (p.L236P). SNP haplotype analysis was consistent with a common ancestral mutation, thus indicating a founder effect in Greek patients with TH deficiency. (C) 2010 Movement Disorder Society
publishDate 2010
dc.date.none.fl_str_mv 2010
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1144
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1144
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv MOVEMENT DISORDERS
ISSN: 08853185
ISSNe: 15318257
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869412241051222016
score 15,812455

Registros relacionados