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

ARRUDA,WALTER O.; COMERLATO,ENIO A.; SCOLA,ROSANA H.; SILVADO,CARLOS E.S.; WERNECK,LINEU C.

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

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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Main Authors:	ARRUDA,WALTER O., COMERLATO,ENIO A., SCOLA,ROSANA H., SILVADO,CARLOS E.S., WERNECK,LINEU C.
Format:	Digital revista
Language:	English
Published:	Academia Brasileira de Neurologia - ABNEURO 1999
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000200004
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spelling	oai:scielo:S0004-282X19990002000042000-12-06Hereditary motor and sensory neuropathy with congenital glaucoma: report on a familyARRUDA,WALTER O.COMERLATO,ENIO A.SCOLA,ROSANA H.SILVADO,CARLOS E.S.WERNECK,LINEU C. hereditary motor and sensory neuropathy congenital glaucoma autosomal recessive inheritance 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.57 n.2A 19991999-06-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000200004en10.1590/S0004-282X1999000200004
institution	SCIELO
collection	OJS
country	Brasil
countrycode	BR
component	Revista
access	En linea
databasecode	rev-scielo-br
tag	revista
region	America del Sur
libraryname	SciELO
language	English
format	Digital
author	ARRUDA,WALTER O. COMERLATO,ENIO A. SCOLA,ROSANA H. SILVADO,CARLOS E.S. WERNECK,LINEU C.
spellingShingle	ARRUDA,WALTER O. COMERLATO,ENIO A. SCOLA,ROSANA H. SILVADO,CARLOS E.S. WERNECK,LINEU C. Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
author_facet	ARRUDA,WALTER O. COMERLATO,ENIO A. SCOLA,ROSANA H. SILVADO,CARLOS E.S. WERNECK,LINEU C.
author_sort	ARRUDA,WALTER O.
title	Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
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
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.
publisher	Academia Brasileira de Neurologia - ABNEURO
publishDate	1999
url	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000200004
work_keys_str_mv	AT arrudawaltero hereditarymotorandsensoryneuropathywithcongenitalglaucomareportonafamily AT comerlatoenioa hereditarymotorandsensoryneuropathywithcongenitalglaucomareportonafamily AT scolarosanah hereditarymotorandsensoryneuropathywithcongenitalglaucomareportonafamily AT silvadocarloses hereditarymotorandsensoryneuropathywithcongenitalglaucomareportonafamily AT wernecklineuc hereditarymotorandsensoryneuropathywithcongenitalglaucomareportonafamily
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Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family

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