Hereditary sensory radicular neuropathy: defective neurogenic inflammation.
Hereditary sensory radicular neuropathy exhibits autosomal dominant inheritance with complete penetrance in males and incomplete penetrance in females. Newer tests of small sensory nerve function were used in screening 8 family members aged between 14 and 66 years. All exhibited some frequent features of the disorder with an onset in the 2nd or 3rd decade, foot ulceration, foot callus, loss of pin prick, thermal and light touch sensation, and some reduction in vibration acuity and proprioception in the lower limbs. The hands were involved in 3 of 8, muscle involvement was present in 5 of 8, but deafness was not detected by audiometry. Nerve conduction velocity, sensory action potentials, latency and amplitude, thermal acuity, vibration acuity and axon reflex flares were measured in all patients. One sural nerve biopsy confirmed the presence of peripheral fibre loss in this predominantly sensory neuropathy. Chemically evoked axon reflex tests were used to evaluate the extent of primary sensory nerve fibre involvement. All patients were tested using a Moor MBF 3-D dual channel laser Doppler velocimeter. Acetylcholine or phenylephrine iontophoretically applied as 16 mC doses evoked absent or tiny axon reflexes in areas of impaired pin prick sensation. By contrast, direct microvascular dilator responses to nitroprusside (smooth muscle dependent) and acetylcholine (endothelium-dependent) were present but somewhat reduced in areas with defective neurogenic inflammation. These results differ significantly from the responses obtained in age-matched healthy controls (P < 0.05). Foot pressure analysis was performed for orthoses in 2 affected members with foot ulceration using the Musgrave Footprint system.(ABSTRACT TRUNCATED AT 250 WORDS)
International Diabetes Institute, Caulfield General Medical Centre.
R A
RA
Westerman
A
A
Block
A
A
Nunn
C A
CA
Delaney
A
A
Hahn
X
X
Dennett
R W
RW
Carr
D000293:Adolescent; D000328:Adult; D000368:Aged; D001369:Axons / Q000502:physiology; D001706:Biopsy; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D006358:Hot Temperature; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012677:Sensation / Q000502:physiology; D013497:Sural Nerve / Q000473:pathology; D014732:Vibration