Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family

Detalhes bibliográficos
Autor(a) principal: ARRUDA,WALTER O.
Data de Publicação: 1999
Outros Autores: COMERLATO,ENIO A., SCOLA,ROSANA H., SILVADO,CARLOS E.S., 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=S0004-282X1999000200004
Resumo: We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.
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spelling Hereditary motor and sensory neuropathy with congenital glaucoma: report on a familyhereditary motor and sensory neuropathycongenital glaucomaautosomal recessive inheritanceWe report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.Academia Brasileira de Neurologia - ABNEURO1999-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000200004Arquivos de Neuro-Psiquiatria v.57 n.2A 1999reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1999000200004info:eu-repo/semantics/openAccessARRUDA,WALTER O.COMERLATO,ENIO A.SCOLA,ROSANA H.SILVADO,CARLOS E.S.WERNECK,LINEU C.eng2000-12-06T00:00:00Zoai:scielo:S0004-282X1999000200004Revistahttp://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 Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
title Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
spellingShingle Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
ARRUDA,WALTER O.
hereditary motor and sensory neuropathy
congenital glaucoma
autosomal recessive inheritance
title_short Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
title_full Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
title_fullStr Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
title_full_unstemmed Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
title_sort Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
author ARRUDA,WALTER O.
author_facet ARRUDA,WALTER O.
COMERLATO,ENIO A.
SCOLA,ROSANA H.
SILVADO,CARLOS E.S.
WERNECK,LINEU C.
author_role author
author2 COMERLATO,ENIO A.
SCOLA,ROSANA H.
SILVADO,CARLOS E.S.
WERNECK,LINEU C.
author2_role author
author
author
author
dc.contributor.author.fl_str_mv ARRUDA,WALTER O.
COMERLATO,ENIO A.
SCOLA,ROSANA H.
SILVADO,CARLOS E.S.
WERNECK,LINEU C.
dc.subject.por.fl_str_mv hereditary motor and sensory neuropathy
congenital glaucoma
autosomal recessive inheritance
topic hereditary motor and sensory neuropathy
congenital glaucoma
autosomal recessive inheritance
description We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.
publishDate 1999
dc.date.none.fl_str_mv 1999-06-01
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=S0004-282X1999000200004
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000200004
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X1999000200004
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.2A 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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