期刊
MUSCLE & NERVE
卷 30, 期 6, 页码 752-760出版社
WILEY
DOI: 10.1002/mus.20172
关键词
familial insensitivity to pain; HSAN; HSAN V; neuropathic arthropathy; nerve growth factor (NGF)
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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