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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| Formato: | Digital revista |
| Idioma: | English |
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Academia Brasileira de Neurologia - ABNEURO
1999
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| Acceso en línea: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000200004 |
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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 |
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| collection |
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| country |
Brasil |
| countrycode |
BR |
| component |
Revista |
| access |
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| 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 |
| _version_ |
1756374111285673984 |