Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report

Detalhes bibliográficos
Autor(a) principal: Trentin,Ana P.
Data de Publicação: 2005
Outros Autores: Scola,Rosana H., Teive,Hélio A.G., Raskin,Salmo, Germiniani,Francisco M.B., 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=S0004-282X2005000200025
Resumo: We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene.
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spelling Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case reportKennedy's diseaseKugelberg-Welander's diseasegenetic testWe described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene.Academia Brasileira de Neurologia - ABNEURO2005-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200025Arquivos de Neuro-Psiquiatria v.63 n.2a 2005reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2005000200025info:eu-repo/semantics/openAccessTrentin,Ana P.Scola,Rosana H.Teive,Hélio A.G.Raskin,SalmoGerminiani,Francisco M.B.Werneck,Lineu C.eng2005-07-05T00:00:00Zoai:scielo:S0004-282X2005000200025Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2005-07-05T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
title Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
spellingShingle Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
Trentin,Ana P.
Kennedy's disease
Kugelberg-Welander's disease
genetic test
title_short Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
title_full Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
title_fullStr Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
title_full_unstemmed Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
title_sort Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
author Trentin,Ana P.
author_facet Trentin,Ana P.
Scola,Rosana H.
Teive,Hélio A.G.
Raskin,Salmo
Germiniani,Francisco M.B.
Werneck,Lineu C.
author_role author
author2 Scola,Rosana H.
Teive,Hélio A.G.
Raskin,Salmo
Germiniani,Francisco M.B.
Werneck,Lineu C.
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Trentin,Ana P.
Scola,Rosana H.
Teive,Hélio A.G.
Raskin,Salmo
Germiniani,Francisco M.B.
Werneck,Lineu C.
dc.subject.por.fl_str_mv Kennedy's disease
Kugelberg-Welander's disease
genetic test
topic Kennedy's disease
Kugelberg-Welander's disease
genetic test
description We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene.
publishDate 2005
dc.date.none.fl_str_mv 2005-06-01
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=S0004-282X2005000200025
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200025
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2005000200025
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.63 n.2a 2005
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
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