GIANT AXONAL NEUROPATHY IN 2 SIBLINGS - A GENERALIZED DISORDER OF INTERMEDIATE FILAMENTS

被引：22

作者：

GUAZZI, GC

MALANDRINI, A

GERLI, R

FEDERICO, A

机构：

[1] POLICLIN LE SCOTTE,IST SCI NEUROL,VIALE BRACCI,I-53100 SIENA,ITALY

[2] CTR STUDIO ENCEFALO NEUROMIOPATIE GENET,SIENA,ITALY

[3] UNIV SIENA,IST ISTOL & EMBRIOL GEN,I-53100 SIENA,ITALY

来源：

EUROPEAN NEUROLOGY | 1991年 / 31卷 / 01期

关键词：

GIANT AXONAL NEUROPATHY; INTERMEDIATE FILAMENTS; GIANT AXONS; GENETIC NEUROPATHY;

D O I：

10.1159/000116646

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report the clinical details and progress over 15 years of 2 siblings with giant axonal neuropathy with multisystem involvement. Changes in intermediate filaments (IF) were found in myelinated and unmyelinated fiber axons of the peripheral nerve and in Schwann cells, endothelial cells of skin vessels, skin fibrocytes and melanocytes, confirming a generalized disorder of IF organization.

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页码：50 / 56

页数：7

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