Premium
Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study
Author(s) -
Minde Jan,
Toolanen Göran,
Andersson Thomas,
Nennesmo Inger,
Remahl Ingela Nilsson,
Svensson Olle,
Solders Göran
Publication year - 2004
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20172
Subject(s) - sural nerve , pathological , medicine , anhidrosis , sensory loss , peripheral neuropathy , nerve conduction , sensory nerve , mutation , anesthesia , endocrinology , sensory system , surgery , gene , genetics , diabetes mellitus , neuroscience , psychology , biology
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, 2004