High prevalence of carpal tunnel syndrome in individuals with rare nerve growth factor-beta mutation

Abstract

In Sweden, a large family with a point mutation in the nerve growth factor-beta gene has previously been identified. The carriers of this mutation have reduced small-fiber density and selective deficits in deep pain and temperature modalities. The clinical findings in this population are described as hereditary sensory and autonomic neuropathy type V. The purpose of the current study was to investigate the prevalence of carpal tunnel syndrome in hereditary sensory and autonomic neuropathy type V based on clinical examinations and electrophysiological measurements. Further, the cross-sectional area of the median nerve at the carpal tunnel inlet was measured with ultrasonography. Out of 52 known individuals heterozygous for the nerve growth factor-beta mutation in Sweden, 23 participated in the current study (12 males, 11 females; mean age, 55 years; range, 25 to 86 years). All participants answered a health questionnaire and underwent clinical examination followed by median nerve conduction study in a case-control design, and measurement of the nerve cross-sectional area with ultrasonography. The diagnosis of carpal tunnel syndrome was made based on consensus criteria using patient history and nerve conduction study. The prevalence of carpal tunnel syndrome in the hereditary sensory and autonomic neuropathy group was 35% (95% CI 19-55%) or 52% (95% CI 37-74%) depending on whether those individuals who had classic symptoms of carpal tunnel syndrome but negative nerve conduction studies were included or not. Those who had a high likelihood of carpal tunnel syndrome based on classic/probable patient history with positive nerve conduction study had a significantly larger median nerve cross-sectional area than those who had an unlikely patient history with negative nerve conduction study. The prevalence of carpal tunnel syndrome was 10 to 25 times higher in individuals heterozygous for the nerve growth factor-beta mutation than the general Swedish population. Further studies are needed to better understand the underlying pathophysiological mechanisms.

Experimental nerve block study on painful withdrawal reflex responses in humans

“…These findings suggest the involvement of Aβ fibers in electrical pain perception and NWR signaling. That Aβ afferents contribute to electrical pain perception is consistent with previous findings of reduced mechanical pain perception in patients with selective Aβ deafferentation and normal mechanical pain perception in patients with selective small-fiber deafferentation (diagnosed with hereditary sensory and autonomic neuropathy type V) (Nagi et al, 2019; Ridderström et al, 2020). Among the diverse nociceptor populations, the recently discovered Aβ nociceptors in human skin are particularly well-suited to signal percepts and responses requiring rapid transmission of nociceptive information from the periphery.…”

“…However, the abolition of NWR th responses during the block, despite using suprathreshold intensities in a condition in which cold perception, while reduced, was still detectable, invites speculation that Aβ nociceptors might be involved. Likewise, the reduction in PAIN th ratings during the block aligns with previous findings of reduced mechanical pain perception in patients with selective Aβ deafferentation and normal mechanical pain perception in patients with selective small-fiber deafferentation [23,40].…”

Spontaneous Activity In Abductor Digiti Minimi )Adm( As An Early Indicator Of The Irritation Of The Ulnar Nerve At The Elbow Joint

“…In one investigation, short segment NCS (SSNCS)-detected compressed lesions were also proved by the gross anatomy and the surgery, with the most prevalent location matching the anatomy characteristic (18). As a result, the short segment NCS can pinpoint precise lesion sites for surgery.…”