Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/2499 |
Resumo: | 17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life. |
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Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency17-Hydroxysteroid DehydrogenasesAmyloid beta-PeptidesBiomarkersBrain Diseases, Metabolic, InbornChild, PreschoolFatal OutcomeGenes, X-LinkedHumansMaleHDE NEU PED17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life.IOS PressRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEOrtez, CVillar, CFons, CDuarte, STPérez, AGarcía-Villoria, JRibes, AOrmazábal, ACasado, MCampistol, JaumeVilaseca, MAGarcía-Cazorla, A2016-05-24T14:07:05Z20112011-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2499engJ Alzheimers Dis. 2011;27(2):253-710.3233/JAD-2011-110647info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:37:43ZPortal AgregadorONG |
dc.title.none.fl_str_mv |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency |
title |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency |
spellingShingle |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency Ortez, C 17-Hydroxysteroid Dehydrogenases Amyloid beta-Peptides Biomarkers Brain Diseases, Metabolic, Inborn Child, Preschool Fatal Outcome Genes, X-Linked Humans Male HDE NEU PED |
title_short |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency |
title_full |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency |
title_fullStr |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency |
title_full_unstemmed |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency |
title_sort |
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency |
author |
Ortez, C |
author_facet |
Ortez, C Villar, C Fons, C Duarte, ST Pérez, A García-Villoria, J Ribes, A Ormazábal, A Casado, M Campistol, Jaume Vilaseca, MA García-Cazorla, A |
author_role |
author |
author2 |
Villar, C Fons, C Duarte, ST Pérez, A García-Villoria, J Ribes, A Ormazábal, A Casado, M Campistol, Jaume Vilaseca, MA García-Cazorla, A |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Ortez, C Villar, C Fons, C Duarte, ST Pérez, A García-Villoria, J Ribes, A Ormazábal, A Casado, M Campistol, Jaume Vilaseca, MA García-Cazorla, A |
dc.subject.por.fl_str_mv |
17-Hydroxysteroid Dehydrogenases Amyloid beta-Peptides Biomarkers Brain Diseases, Metabolic, Inborn Child, Preschool Fatal Outcome Genes, X-Linked Humans Male HDE NEU PED |
topic |
17-Hydroxysteroid Dehydrogenases Amyloid beta-Peptides Biomarkers Brain Diseases, Metabolic, Inborn Child, Preschool Fatal Outcome Genes, X-Linked Humans Male HDE NEU PED |
description |
17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011 2011-01-01T00:00:00Z 2016-05-24T14:07:05Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/2499 |
url |
http://hdl.handle.net/10400.17/2499 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
J Alzheimers Dis. 2011;27(2):253-7 10.3233/JAD-2011-110647 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
IOS Press |
publisher.none.fl_str_mv |
IOS Press |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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repository.mail.fl_str_mv |
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1777302270135762944 |