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.
Minde
Jan
J
Department of Orthopedics, Gällivare Hospital, Gällivare, Sweden.
Toolanen
Göran
G
Andersson
Thomas
T
Nennesmo
Inger
I
Remahl
Ingela Nilsson
IN
Svensson
Olle
O
Solders
Göran
G
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