Publications by authors named "T Helas"
Article Synopsis
- HNPP is an inherited neuropathy linked to a deficiency of the PMP-22 protein, resulting from deletions or mutations on chromosome 17, leading to recurrent nerve issues, particularly in areas prone to pressure.
- The study aimed to examine the presence of pain in HNPP patients and assess small nerve fiber function through quantitative sensory testing (QST) and sudomotor function tests.
- Among the 19 patients evaluated, many reported numbness and signs of general neuropathy, while a subset experienced various types of pain, particularly in the feet, highlighting potential dysfunction in small nerve fibers.
Background and aim "Gain-of-function" mutations in voltage-gated sodium channel NaV1.7 have been linked to erythromelalgia (EM), characterized by painful hot and red hands and feet. We investigated the proportion of patients with EM that carry a mutation in NaV1.
View Article and Find Full Text PDFObjectives: Nociceptive thresholds and supra-threshold pain ratings as well as their reduction upon local injection with lidocaine were compared between healthy subjects and patients with erythromelalgia (EM).
Methods: Lidocaine (0.25, 0.
Introduction: The sodium channel Nav 1.9 is expressed in peripheral nociceptors and has recently been linked to human pain conditions, but the exact role of Nav 1.9 for human nociceptor excitability is still unclear.
View Article and Find Full Text PDFObjectives: Nerve growth factor (NGF) is a protein important for growth and survival, but also for modulation of sensitivity of nociceptors and sympathetic neurons. The purpose of the present study was to investigate the effects of reduced NGF signaling in patients with hereditary sensory and autonomic neuropathies type V, congenital insensitivity to pain, caused by a mutation of the NGFβ gene, including a characterization of single nociceptive fibers using microneurography (MNG).
Materials And Methods: One homozygote and 2 heterozygote patients with this mutation were examined with electromyography/neurography, thermal testing, quantitative sudomotor axon reflex test, and electrically induced axon reflex erythema in addition to MNG.