HEREDITARY NEURALGIC AMYOTROPHY AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - 2 DISTINCT CLINICAL, ELECTROPHYSIOLOGIC, AND GENETIC ENTITIES

被引：37

作者：

GOUIDER, R

LEGUERN, E

EMILE, J

TARDIEU, S

CABON, F

SAMID, M

WEISSENBACH, J

AGID, Y

BOUCHE, P

BRICE, A

机构：

[1] HOP LA PITIE SALPETRIERE,INSERM,U134,F-75651 PARIS,FRANCE

[2] GENETHON,F-91011 EVRY,FRANCE

[3] CHU ANGERS,SERV NEUROL,ANGERS,FRANCE

来源：

NEUROLOGY | 1994年 / 44卷 / 12期

关键词：

D O I：

10.1212/WNL.44.12.2250

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Hereditary neuralgic amyotrophy (HNA) is an autosomal disease characterized by painful episodes of brachial palsy. The presence of tomacula in some patients suggested that HNA might be genetically related to hereditary neuropathy with liability to pressure palsies (HNPP), caused by point mutations in the PMP22 gene or deletion of the region containing this gene. In a clinical, electrophysiologic, and molecular study of two families with HNA, we show that the PMP22 gene is not deleted, duplicated, or mutated in HNA and that the disease is not linked to any other gene in the HNPP deleted region. We conclude that HNA and HNPP are distinct genetic entities.

引用

页码：2250 / 2252

页数：3

共 11 条

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