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Abstract #15319 Published in IGR 1-3
Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family
Arruda WO; Comerlato EA; Scola RH; Silvado CE; Werneck LCArquivos de Neuro-Psiquiatria 1999; 57: 190-194
The authors report three siblings from 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.
Dr. W.O. Arruda, Servico de Doencas Neuromusculares, Hospital de Clinicas, Universidade Federal do Parana; Brazil
Classification:
1.2 Population genetics (Part of: 1 General aspects)
