Autosomal dominant HMSN with proximal involvement: new Brazilian cases
Autor(a) principal: | |
---|---|
Data de Publicação: | 2009 |
Outros Autores: | , , , |
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=S0004-282X2009000500021 |
Resumo: | We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report. |
id |
ABNEURO-1_f7667d7f807490753cec035fae4b1adf |
---|---|
oai_identifier_str |
oai:scielo:S0004-282X2009000500021 |
network_acronym_str |
ABNEURO-1 |
network_name_str |
Arquivos de neuro-psiquiatria (Online) |
repository_id_str |
|
spelling |
Autosomal dominant HMSN with proximal involvement: new Brazilian casesHMSNHMSN-Pproximal motor neuropathyaxonal neuropathyproximal muscle atrophyWe report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.Academia Brasileira de Neurologia - ABNEURO2009-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000500021Arquivos de Neuro-Psiquiatria v.67 n.3b 2009reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2009000500021info:eu-repo/semantics/openAccessPatroclo,Cristiane BorgesLino,Angelina Maria MartinsMarchiori,Paulo EurípidesBrotto,Mário Wilson IervolinoHirata,Maria Teresa Alveseng2009-10-13T00:00:00Zoai:scielo:S0004-282X2009000500021Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2009-10-13T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases |
title |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases |
spellingShingle |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases Patroclo,Cristiane Borges HMSN HMSN-P proximal motor neuropathy axonal neuropathy proximal muscle atrophy |
title_short |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases |
title_full |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases |
title_fullStr |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases |
title_full_unstemmed |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases |
title_sort |
Autosomal dominant HMSN with proximal involvement: new Brazilian cases |
author |
Patroclo,Cristiane Borges |
author_facet |
Patroclo,Cristiane Borges Lino,Angelina Maria Martins Marchiori,Paulo Eurípides Brotto,Mário Wilson Iervolino Hirata,Maria Teresa Alves |
author_role |
author |
author2 |
Lino,Angelina Maria Martins Marchiori,Paulo Eurípides Brotto,Mário Wilson Iervolino Hirata,Maria Teresa Alves |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Patroclo,Cristiane Borges Lino,Angelina Maria Martins Marchiori,Paulo Eurípides Brotto,Mário Wilson Iervolino Hirata,Maria Teresa Alves |
dc.subject.por.fl_str_mv |
HMSN HMSN-P proximal motor neuropathy axonal neuropathy proximal muscle atrophy |
topic |
HMSN HMSN-P proximal motor neuropathy axonal neuropathy proximal muscle atrophy |
description |
We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report. |
publishDate |
2009 |
dc.date.none.fl_str_mv |
2009-09-01 |
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=S0004-282X2009000500021 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000500021 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X2009000500021 |
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.67 n.3b 2009 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_ |
1754212767078809600 |