Hereditary motor and sensory neuropathy with congenital glaucoma - Report on a family

被引：8

作者：

Arruda, WO ^{[1
]}

Comerlato, EA ^{[1
]}

Scola, RH ^{[1
]}

Silvado, CES ^{[1
]}

Werneck, LC ^{[1
]}

机构：

[1] Univ Fed Parana, Hosp Clin, Serv Doencas Neuromusculares, BR-80060900 Curitiba, Parana, Brazil

来源：

ARQUIVOS DE NEURO-PSIQUIATRIA | 1999年 / 57卷 / 2A期

关键词：

hereditary motor and sensory neuropathy; congenital glaucoma; autosomal recessive inheritance;

D O I：

10.1590/S0004-282X1999000200004

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：190 / 194

页数：5

共 9 条

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