CMT with pyramidal features

被引：27

作者：

Vucic, S ^{[1
]}

Kennerson, M ^{[1
]}

Zhu, D ^{[1
]}

Miedema, E ^{[1
]}

Kok, C ^{[1
]}

Nicholson, GA ^{[1
]}

机构：

[1] Univ Sydney, Concord Hosp, ANZAC Res Inst, Neurobiol Lab, Sydney, NSW 2006, Australia

来源：

NEUROLOGY | 2003年 / 60卷 / 04期

关键词：

D O I：

10.1212/01.WNL.0000048561.61921.71

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To determine whether Charcot-Marie-Tooth (CMT) with pyramidal features is genetically distinct from other dominantly inherited axonal neuropathies, the authors examined all chromosomal loci and genes for axonal CMT. Two families were identified with an axonal CMT phenotype with distal wasting, weakness, pes cavus, sensory loss, and mild pyramidal signs (including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait). Linkage studies excluded CMT2A, 2B, 2D, 2E, and 2F; ALS4; and HMN2. There were no mutations in the PMP22, MPZ/Po, or EGR2 genes.

引用

页码：696 / 699

页数：4

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