Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene.: A neurophysiological and pathological study

被引：62

作者：

Minde, J

Toolanen, G

Andersson, T

Nennesmo, I

Remahl, IN

Svensson, O

Solders, G ^{[1
]}

机构：

[1] Karolinska Univ Hosp, Dept Neurol, S-14185 Stockholm, Sweden

[2] Karolinska Univ Hosp, Dept Pathol, S-14185 Stockholm, Sweden

[3] Karolinska Univ Hosp, Dept Neurophysiol, S-14185 Stockholm, Sweden

[4] Univ Umea Hosp, Dept Surg & Perioperat Sci, S-90185 Umea, Sweden

[5] Gallivare Hosp, Dept Orthoped, Gallivare, Sweden

来源：

MUSCLE & NERVE | 2004年 / 30卷 / 06期

关键词：

familial insensitivity to pain; HSAN; HSAN V; neuropathic arthropathy; nerve growth factor (NGF);

D O I：

10.1002/mus.20172

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V). Painfree joint destruction and fractures were common. Peripheral nerve conduction was normal, but temperature thresholds were increased. Sural nerve biopsies showed a moderate loss of Adelta fibers and a severe reduction of C fibers. The three most severely affected cases were all born to consanguineous parents, and were homozygotes for the causal genetic mutation. Treatment of these patients is discussed.

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页码：752 / 760

页数：9

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