Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study.
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 A delta 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.
Department of Orthopedics, Gällivare Hospital, Gällivare, Sweden.
Jan
J
Minde
Göran
G
Toolanen
Thomas
T
Andersson
Inger
I
Nennesmo
Ingela Nilsson
IN
Remahl
Olle
O
Svensson
Göran
G
Solders
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009154:Mutation; D020932:Nerve Growth Factor / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013497:Sural Nerve / Q000473:pathology
D020932:Nerve Growth Factor