Juvenile Huntington's disease confirmed by genetic examination in twins

Detalhes bibliográficos
Autor(a) principal: LEVY,GILBERTO
Data de Publicação: 1999
Outros Autores: NOBRE,MARIA EDUARDA, CIMINI,VINICIUS T., RASKIN,SALMO, ENGELHARDT,ELIASZ
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=S0004-282X1999000500022
Resumo: Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.
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spelling Juvenile Huntington's disease confirmed by genetic examination in twinsHuntington's diseasejuveniletwinsEarly-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.Academia Brasileira de Neurologia - ABNEURO1999-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000500022Arquivos de Neuro-Psiquiatria v.57 n.3B 1999reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1999000500022info:eu-repo/semantics/openAccessLEVY,GILBERTONOBRE,MARIA EDUARDACIMINI,VINICIUS T.RASKIN,SALMOENGELHARDT,ELIASZeng2000-12-06T00:00:00Zoai:scielo:S0004-282X1999000500022Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2000-12-06T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Juvenile Huntington's disease confirmed by genetic examination in twins
title Juvenile Huntington's disease confirmed by genetic examination in twins
spellingShingle Juvenile Huntington's disease confirmed by genetic examination in twins
LEVY,GILBERTO
Huntington's disease
juvenile
twins
title_short Juvenile Huntington's disease confirmed by genetic examination in twins
title_full Juvenile Huntington's disease confirmed by genetic examination in twins
title_fullStr Juvenile Huntington's disease confirmed by genetic examination in twins
title_full_unstemmed Juvenile Huntington's disease confirmed by genetic examination in twins
title_sort Juvenile Huntington's disease confirmed by genetic examination in twins
author LEVY,GILBERTO
author_facet LEVY,GILBERTO
NOBRE,MARIA EDUARDA
CIMINI,VINICIUS T.
RASKIN,SALMO
ENGELHARDT,ELIASZ
author_role author
author2 NOBRE,MARIA EDUARDA
CIMINI,VINICIUS T.
RASKIN,SALMO
ENGELHARDT,ELIASZ
author2_role author
author
author
author
dc.contributor.author.fl_str_mv LEVY,GILBERTO
NOBRE,MARIA EDUARDA
CIMINI,VINICIUS T.
RASKIN,SALMO
ENGELHARDT,ELIASZ
dc.subject.por.fl_str_mv Huntington's disease
juvenile
twins
topic Huntington's disease
juvenile
twins
description Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.
publishDate 1999
dc.date.none.fl_str_mv 1999-09-01
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=S0004-282X1999000500022
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000500022
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X1999000500022
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.57 n.3B 1999
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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