Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study
Authors:
- 5 October 2004
- journal article
- case report
- Published by Wiley in Muscle & Nerve
- Vol. 30 (6) , 752-760
Abstract
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 Aδ 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. Muscle Nerve, 2004Keywords
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