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

Arquivos de Neuro-Psiquiatria

Walter O. Arruda¹  Enio A. Comerlato¹  Rosana H. Scola¹  Carlos E.s. Silvado¹  Lineu C. Werneck¹ 

[1] ,Universidade Federal do Paraná Hospital de Clínicas Serviço de Doenças Neuromusculares

关键词: hereditary motor and sensory neuropathy;    congenital glaucoma;    autosomal recessive inheritance;    neuropatia hereditária sensitivo-motora;    glaucoma congênito;    herança autossômica recessiva;   

DOI  :  10.1590/S0004-282X1999000200004

来源: SciELO

【 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.

【 授权许可】

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