Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

被引：89

作者：

Fabrizi, GM ^{[1
]}

Cavallaro, T ^{[1
]}

Angiari, C ^{[1
]}

Bertolasi, L ^{[1
]}

Cabrini, I ^{[1
]}

Ferrarini, M ^{[1
]}

Rizzuto, N ^{[1
]}

机构：

[1] Univ Verona, Policlin GB Rossi, Dept Neurol & Visual Sci, Sect Clin Neurol, I-37134 Verona, Italy

来源：

NEUROLOGY | 2004年 / 62卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000120664.07186.3C

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.

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页码：1429 / 1431

页数：3

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